Disease on EC 1.3.8.7 - medium-chain acyl-CoA dehydrogenase
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3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
3-hydroxyacyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
3-hydroxyacyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Abetalipoproteinemia
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency.
acetyl-coa c-acyltransferase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
acetyl-coa c-acyltransferase deficiency
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
acetyl-coa c-acyltransferase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Acidosis
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Acidosis
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Acidosis, Lactic
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
acyl-coa dehydrogenase deficiency
"It's Just Always Eating": The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
acyl-coa dehydrogenase deficiency
Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
acyl-coa dehydrogenase deficiency
Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge.
acyl-coa dehydrogenase deficiency
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
acyl-coa dehydrogenase deficiency
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.
acyl-coa dehydrogenase deficiency
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.
acyl-coa dehydrogenase deficiency
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
acyl-coa dehydrogenase deficiency
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
acyl-coa dehydrogenase deficiency
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn.
acyl-coa dehydrogenase deficiency
DNA techniques for screening of inborn errors of metabolism.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
acyl-coa dehydrogenase deficiency
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
acyl-coa dehydrogenase deficiency
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
acyl-coa dehydrogenase deficiency
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
acyl-coa dehydrogenase deficiency
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity.
acyl-coa dehydrogenase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
acyl-coa dehydrogenase deficiency
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
acyl-coa dehydrogenase deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population
acyl-coa dehydrogenase deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.
acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
acyl-coa dehydrogenase deficiency
Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Mutations in medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
acyl-coa dehydrogenase deficiency
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.
acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.
acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
acyl-coa dehydrogenase deficiency
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
acyl-coa dehydrogenase deficiency
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
acyl-coa dehydrogenase deficiency
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
acyl-coa dehydrogenase deficiency
Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
acyl-coa dehydrogenase deficiency
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
acyl-coa dehydrogenase deficiency
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
acyl-coa dehydrogenase deficiency
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
acyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
acyl-coa dehydrogenase deficiency
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.
acyl-coa dehydrogenase deficiency
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .
acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency is being evaluated.
acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
acyl-coa dehydrogenase deficiency
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
acyl-coa dehydrogenase deficiency
Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Stable isotope dilution method for diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
acyl-coa dehydrogenase deficiency
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
acyl-coa dehydrogenase deficiency
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
acyl-coa dehydrogenase deficiency
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
acyl-coa dehydrogenase deficiency
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
acyl-coa dehydrogenase deficiency
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
acyl-coa dehydrogenase deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
acyl-coa dehydrogenase deficiency
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Vitreous humour organic acids in medium chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
acyl-coa dehydrogenase deficiency
[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory]
acyl-coa dehydrogenase deficiency
[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency]
acyl-coa dehydrogenase deficiency
[New Inborn Errors of Metabolism added in the French program of neonatal screening].
acyl-coa dehydrogenase deficiency
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
acyl-coa dehydrogenase deficiency
[Sudden and unexpected death in a young child. 'Crib death' in an older child]
acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Adrenal Hyperplasia, Congenital
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Adrenal Hyperplasia, Congenital
Comprehensive cost-utility analysis of newborn screening strategies.
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Adrenal Hyperplasia, Congenital
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Adrenal Hyperplasia, Congenital
Expanded newborn screening in Greece: 30 months of experience.
Adrenal Hyperplasia, Congenital
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
Adrenal Hyperplasia, Congenital
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Adrenogenital Syndrome
[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
Adrenoleukodystrophy
Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects.
Adrenoleukodystrophy
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Aortic Valve Disease
Deciphering the gene expression profile of peroxisome proliferator-activated receptor signaling pathway in the left atria of patients with mitral regurgitation.
Apnea
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Argininosuccinic Aciduria
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
aromatic-l-amino-acid decarboxylase deficiency
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.
Arrhythmogenic Right Ventricular Dysplasia
Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice.
Biotinidase Deficiency
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Biotinidase Deficiency
Comprehensive cost-utility analysis of newborn screening strategies.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Biotinidase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Biotinidase Deficiency
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Biotinidase Deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Brain Diseases
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Brain Diseases
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Brain Diseases
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency.
Brain Diseases
Inhibition of energy metabolism in cerebral cortex of young rats by the medium-chain fatty acids accumulating in MCAD deficiency.
Brain Diseases
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Brain Diseases
Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus.
Brain Diseases
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.
Brain Diseases
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Breast Neoplasms
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Brief, Resolved, Unexplained Event
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Carcinogenesis
Bioinformatic analysis identifies potentially key differentially expressed genes in oncogenesis and progression of clear cell renal cell carcinoma.
Carcinoma, Hepatocellular
Hormonal and substrate regulation of 3-thia fatty acid metabolism in Morris 7800 C1 hepatoma cells.
Carcinoma, Hepatocellular
Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
Cardiomegaly
Fatty acid utilization in the hypertrophied and failing heart: molecular regulatory mechanisms.
Cardiomegaly
Mapping drug-target interactions and synergy in multi-molecular therapeutics for pressure-overload cardiac hypertrophy.
Cardiomyopathies
Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice.
Cardiomyopathies
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Cardiomyopathy, Dilated
Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice.
Cardiomyopathy, Dilated
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
carnitine o-palmitoyltransferase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
carnitine o-palmitoyltransferase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
carnitine o-palmitoyltransferase deficiency
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
carnitine o-palmitoyltransferase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
carnitine o-palmitoyltransferase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
carnitine o-palmitoyltransferase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Citrullinemia
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Citrullinemia
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Citrullinemia
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Citrullinemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Colorectal Neoplasms
The roles of microbial products in the development of colorectal cancer: a review.
Coma
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
Coma
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Coma
Medium chain acyl CoA dehydrogenase deficiency causes unexplained coma in a 10-year-old child.
Coma
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
Coma
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.
Coma
[Medium-chain acyl-CoA dehydrogenase defect. Acute cerebral episodes and nonketotic hypoglycemia in children]
Congenital Hypothyroidism
Comprehensive cost-utility analysis of newborn screening strategies.
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Congenital Hypothyroidism
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Congenital Hypothyroidism
Neonatal Screening for Congenital Metabolic and Endocrine Disorders.
Congenital Hypothyroidism
Neonatal Screening for Congenital Metabolic and Endocrine DisordersResults From Germany for the Years 20062018
Congenital Hypothyroidism
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Congenital Hypothyroidism
[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
Contracture
Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report.
cystathionine beta-synthase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.
Cystic Fibrosis
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Cystic Fibrosis
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
Cystic Fibrosis
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Cystic Fibrosis
The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.
Cytochrome-c Oxidase Deficiency
Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
Death, Sudden, Cardiac
Mitochondrial fatty acid oxidation disorders in Thai infants: a report of 3 cases.
Diabetes Mellitus, Type 1
Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge.
Drug-Related Side Effects and Adverse Reactions
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
Duodenal Ulcer
Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency.
electron-transferring-flavoprotein dehydrogenase deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Fanconi Syndrome
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Fatty Liver
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency.
Galactosemias
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Galactosemias
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Galactosemias
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Gastroenteritis
Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency.
Genetic Diseases, Inborn
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Genetic Diseases, Inborn
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
Genetic Diseases, Inborn
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.
Genetic Diseases, Inborn
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Genetic Diseases, Inborn
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
Genetic Diseases, Inborn
Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients.
Genetic Diseases, Inborn
Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches.
Glioblastoma
Medium-chain acyl CoA dehydrogenase protects mitochondria from lipid peroxidation in glioblastoma.
glutaryl-coa dehydrogenase (etf) deficiency
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Glycogen Storage Disease
A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.
Glycogen Storage Disease
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
Glycogen Storage Disease
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Glycogen Storage Disease
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
Heart Failure
Postinfarction heart failure in rats is associated with upregulation of GLUT-1 and downregulation of genes of fatty acid metabolism.
Heart Septal Defects, Ventricular
The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy.
HELLP Syndrome
The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency.
Hip Dislocation
Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Homocystinuria
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Homocystinuria
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Homocystinuria
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Homocystinuria
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
hydroxymethylglutaryl-coa lyase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
hydroxymethylglutaryl-coa lyase deficiency
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
hydroxymethylglutaryl-coa lyase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Hyperglycinemia, Nonketotic
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
Hyperinsulinism
Audit of acute hypoglycaemia in children: re-audit of procedures for diagnosis.
Hypertension
Skeletal Muscle Characteristics of Rats with Obesity, Diabetes, Hypertension, and Hyperlipidemia.
Hypertrophy, Left Ventricular
Postinfarction heart failure in rats is associated with upregulation of GLUT-1 and downregulation of genes of fatty acid metabolism.
Hypoglycemia
Dicarboxylic aciduria due to medium chain acyl CoA dehydrogenase defect. A cause of hypoglycemia in childhood.
Hypoglycemia
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
Hypoglycemia
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
Hypoglycemia
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Hypoglycemia
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Hypoglycemia
Mitochondrial bioactivation of cysteine S-conjugates and 4-thiaalkanoates: implications for mitochondrial dysfunction and mitochondrial diseases.
Hypoglycemia
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.
Hypoglycemia
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
Hypoglycemia
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Hypoglycemia
Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
Hypoglycemia
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Hypoglycemia
Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
Hypoglycemia
Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
Hypoglycemia
[Medium-chain acyl-CoA dehydrogenase defect. Acute cerebral episodes and nonketotic hypoglycemia in children]
Hypoglycemia
[Severe hypoglycemia and clouding of consciousness caused by deficiency of the connecting link acyl CoA dehydrogenase]
Infections
Forkhead box transcription factor regulation and lipid accumulation by hepatitis C virus.
Infections
Gene signatures of SARS-CoV/SARS-CoV-2-infected ferret lungs in short- and long-term models.
Inflammatory Bowel Diseases
The roles of microbial products in the development of colorectal cancer: a review.
Insulin Resistance
Liraglutide improves insulin sensitivity in high fat diet induced diabetic mice through multiple pathways.
Intellectual Disability
Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan.
isovaleryl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Leigh Disease
Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
Lethargy
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Lethargy
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Lethargy
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Lethargy
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Lethargy
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
Liver Diseases
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Liver Failure, Acute
Acute liver failure in pregnancy associated with maternal MCAD deficiency.
long-chain acyl-coa dehydrogenase deficiency
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
long-chain acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
long-chain acyl-coa dehydrogenase deficiency
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
long-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
long-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
long-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
long-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
long-chain acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain acyl-coa dehydrogenase deficiency
Metabolic encephalopathy in Egyptian children.
long-chain acyl-coa dehydrogenase deficiency
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
long-chain acyl-coa dehydrogenase deficiency
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
long-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Maple Syrup Urine Disease
Comprehensive cost-utility analysis of newborn screening strategies.
Maple Syrup Urine Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Maple Syrup Urine Disease
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Maple Syrup Urine Disease
Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Maple Syrup Urine Disease
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Maple Syrup Urine Disease
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Maple Syrup Urine Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Maple Syrup Urine Disease
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
medium-chain acyl-coa dehydrogenase deficiency
"It's Just Always Eating": The Experiences of Young People Growing up Medium Chain Acyl-coA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
medium-chain acyl-coa dehydrogenase deficiency
A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.
medium-chain acyl-coa dehydrogenase deficiency
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
medium-chain acyl-coa dehydrogenase deficiency
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.
medium-chain acyl-coa dehydrogenase deficiency
A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net.
medium-chain acyl-coa dehydrogenase deficiency
A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
medium-chain acyl-coa dehydrogenase deficiency
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.
medium-chain acyl-coa dehydrogenase deficiency
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
A novel molecular aspect of Japanese patients with medium-chain acyl-CoA dehydrogenase deficiency (MCADD): c.449-452delCTGA is a common mutation in Japanese patients with MCADD.
medium-chain acyl-coa dehydrogenase deficiency
A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
A simple screening test for medium-chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
medium-chain acyl-coa dehydrogenase deficiency
A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.
medium-chain acyl-coa dehydrogenase deficiency
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Abnormal urinary excretion of unsaturated dicarboxylic acids in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Acylcarnitine profiles during carnitine loading and fasting tests in a Japanese patient with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
medium-chain acyl-coa dehydrogenase deficiency
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
medium-chain acyl-coa dehydrogenase deficiency
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
medium-chain acyl-coa dehydrogenase deficiency
An accurate and sensitive assay of [14C]octanoate oxidation and its application on tissue homogenates and fibroblasts.
medium-chain acyl-coa dehydrogenase deficiency
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Anaesthesia and medium-chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Analysis of acylcarnitines as their N-demethylated ester derivatives by gas chromatography-chemical ionization mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
medium-chain acyl-coa dehydrogenase deficiency
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Anesthesia in a child with medium-chain Acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Anesthetic considerations for a patient with compound heterozygous medium-chain Acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Anesthetic management for a patient with medium-chain acyl-CoA dehydrogenase deficiency in an outpatient setting using ketamine and fentanyl.
medium-chain acyl-coa dehydrogenase deficiency
Arguments for early screening: a clinician's perspective.
medium-chain acyl-coa dehydrogenase deficiency
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
medium-chain acyl-coa dehydrogenase deficiency
Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Assay of acyl-CoA dehydrogenases in muscle and liver and identification of four new cases of medium-chain acyl-CoA dehydrogenase deficiency associated with systemic carnitine deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Audit of acute hypoglycaemia in children: re-audit of procedures for diagnosis.
medium-chain acyl-coa dehydrogenase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data.
medium-chain acyl-coa dehydrogenase deficiency
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
medium-chain acyl-coa dehydrogenase deficiency
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
medium-chain acyl-coa dehydrogenase deficiency
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Birth Prevalence of Fatty Acid ?-Oxidation Disorders in Iberia.
medium-chain acyl-coa dehydrogenase deficiency
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
medium-chain acyl-coa dehydrogenase deficiency
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.
medium-chain acyl-coa dehydrogenase deficiency
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant.
medium-chain acyl-coa dehydrogenase deficiency
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain.
medium-chain acyl-coa dehydrogenase deficiency
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Clinical and molecular aspects of Japanese children with medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Clinical efficacy and cost-effectiveness of newborn screening for medium chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
medium-chain acyl-coa dehydrogenase deficiency
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.
medium-chain acyl-coa dehydrogenase deficiency
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Coexistence of medium chain acyl-CoA dehydrogenase deficiency (MCADD) and type 1 diabetes (T1D): a management challenge.
medium-chain acyl-coa dehydrogenase deficiency
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene.
medium-chain acyl-coa dehydrogenase deficiency
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Comprehensive cost-utility analysis of newborn screening strategies.
medium-chain acyl-coa dehydrogenase deficiency
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
medium-chain acyl-coa dehydrogenase deficiency
Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.
medium-chain acyl-coa dehydrogenase deficiency
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.
medium-chain acyl-coa dehydrogenase deficiency
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.
medium-chain acyl-coa dehydrogenase deficiency
Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.
medium-chain acyl-coa dehydrogenase deficiency
Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
medium-chain acyl-coa dehydrogenase deficiency
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
medium-chain acyl-coa dehydrogenase deficiency
Data required for the evaluation of newborn screening programmes.
medium-chain acyl-coa dehydrogenase deficiency
Decreased fasting free fatty acids with L-carnitine in children with carnitine deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
medium-chain acyl-coa dehydrogenase deficiency
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
medium-chain acyl-coa dehydrogenase deficiency
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Determination of medium chain fatty acids in serum.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation.
medium-chain acyl-coa dehydrogenase deficiency
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples.
medium-chain acyl-coa dehydrogenase deficiency
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
medium-chain acyl-coa dehydrogenase deficiency
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
medium-chain acyl-coa dehydrogenase deficiency
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.
medium-chain acyl-coa dehydrogenase deficiency
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
DNA techniques for screening of inborn errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.
medium-chain acyl-coa dehydrogenase deficiency
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
medium-chain acyl-coa dehydrogenase deficiency
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children.
medium-chain acyl-coa dehydrogenase deficiency
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
medium-chain acyl-coa dehydrogenase deficiency
Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: a practical confirmatory test for tandem mass spectrometry newborn screening in Japan.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
medium-chain acyl-coa dehydrogenase deficiency
Erratum to: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Essential oils can cause false-positive results of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.
medium-chain acyl-coa dehydrogenase deficiency
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
medium-chain acyl-coa dehydrogenase deficiency
Evaluating newborn screening programmes based on dried blood spots: future challenges.
medium-chain acyl-coa dehydrogenase deficiency
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
medium-chain acyl-coa dehydrogenase deficiency
Evidence for intermediate channeling in mitochondrial beta-oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses.
medium-chain acyl-coa dehydrogenase deficiency
Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening in Greece: 30 months of experience.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
medium-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening: reducing harm, assessing benefit.
medium-chain acyl-coa dehydrogenase deficiency
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
medium-chain acyl-coa dehydrogenase deficiency
Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
medium-chain acyl-coa dehydrogenase deficiency
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Extended newborn screening: an update for the general paediatrician.
medium-chain acyl-coa dehydrogenase deficiency
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Fat oxidation defect presenting with overwhelming ketonuria.
medium-chain acyl-coa dehydrogenase deficiency
Fatty Acid Beta-Oxidation Disorders: A Brief Review.
medium-chain acyl-coa dehydrogenase deficiency
Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.
medium-chain acyl-coa dehydrogenase deficiency
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years.
medium-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
medium-chain acyl-coa dehydrogenase deficiency
Fatty infiltration in the liver in medium chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.
medium-chain acyl-coa dehydrogenase deficiency
Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
medium-chain acyl-coa dehydrogenase deficiency
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Flux analysis of inborn errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
medium-chain acyl-coa dehydrogenase deficiency
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.
medium-chain acyl-coa dehydrogenase deficiency
Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Gene variants predisposing to SIDS: current knowledge.
medium-chain acyl-coa dehydrogenase deficiency
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.
medium-chain acyl-coa dehydrogenase deficiency
Genetic disorders of mitochondrial fatty acid oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?
medium-chain acyl-coa dehydrogenase deficiency
Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.
medium-chain acyl-coa dehydrogenase deficiency
Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.
medium-chain acyl-coa dehydrogenase deficiency
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
medium-chain acyl-coa dehydrogenase deficiency
High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4'-bromophenacyl trifluoromethanesulfonate.
medium-chain acyl-coa dehydrogenase deficiency
Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.
medium-chain acyl-coa dehydrogenase deficiency
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
medium-chain acyl-coa dehydrogenase deficiency
Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Hyperuricemia in medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications.
medium-chain acyl-coa dehydrogenase deficiency
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: two-stage amplification using two different sets of primers improves accuracy and sensitivity.
medium-chain acyl-coa dehydrogenase deficiency
In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.
medium-chain acyl-coa dehydrogenase deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
medium-chain acyl-coa dehydrogenase deficiency
Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.
medium-chain acyl-coa dehydrogenase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
medium-chain acyl-coa dehydrogenase deficiency
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany.
medium-chain acyl-coa dehydrogenase deficiency
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.
medium-chain acyl-coa dehydrogenase deficiency
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
medium-chain acyl-coa dehydrogenase deficiency
Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
medium-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
International perspectives on newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
medium-chain acyl-coa dehydrogenase deficiency
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
medium-chain acyl-coa dehydrogenase deficiency
Introduction to the newborn screening fact sheets.
medium-chain acyl-coa dehydrogenase deficiency
Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
medium-chain acyl-coa dehydrogenase deficiency
Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
L-carnitine: therapeutic strategy for metabolic encephalopathy.
medium-chain acyl-coa dehydrogenase deficiency
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.
medium-chain acyl-coa dehydrogenase deficiency
Lactic acidosis in long-chain fatty acid beta-oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
medium-chain acyl-coa dehydrogenase deficiency
Late presentation of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
medium-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
medium-chain acyl-coa dehydrogenase deficiency
Management Principles for Acute Illness in Patients With Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl CoA dehydrogenase deficiency causes unexplained coma in a 10-year-old child.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population
medium-chain acyl-coa dehydrogenase deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) in the Irish Paediatric Population.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Medium chain acyl-CoA dehydrogenase deficiency: apparent Km and Vmax values for fibroblast acyl-CoA dehydrogenase towards octanoyl CoA in patient and control cell lines.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.
medium-chain acyl-coa dehydrogenase deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
medium-chain acyl-coa dehydrogenase deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
medium-chain acyl-coa dehydrogenase deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: a 1H-n.m.r. spectroscopic study.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: a case presentation.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.
medium-chain acyl-coa dehydrogenase deficiency
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Six cases in the Chinese population.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain.
medium-chain acyl-coa dehydrogenase deficiency
Metabolic encephalopathy in Egyptian children.
medium-chain acyl-coa dehydrogenase deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.
medium-chain acyl-coa dehydrogenase deficiency
Molecular and functional characterisation of mild MCAD deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.
medium-chain acyl-coa dehydrogenase deficiency
Molecular basis of isovaleric acidemia and medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Molecular basis of mitochondrial fatty acid oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death.
medium-chain acyl-coa dehydrogenase deficiency
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.
medium-chain acyl-coa dehydrogenase deficiency
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate.
medium-chain acyl-coa dehydrogenase deficiency
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.
medium-chain acyl-coa dehydrogenase deficiency
Mouse models for disorders of mitochondrial fatty acid beta-oxidation.
medium-chain acyl-coa dehydrogenase deficiency
MR imaging findings of glutaric aciduria type II.
medium-chain acyl-coa dehydrogenase deficiency
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
medium-chain acyl-coa dehydrogenase deficiency
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder.
medium-chain acyl-coa dehydrogenase deficiency
Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Mutations in medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal Screening for Congenital Metabolic and Endocrine Disorders.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal Screening for Congenital Metabolic and Endocrine DisordersResults From Germany for the Years 20062018
medium-chain acyl-coa dehydrogenase deficiency
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal screening in Europe; the situation in 2004.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Neonates at risk of medium-chain acyl-CoA dehydrogenase deficiency: a perinatal protocol for use before population neonatal screening test results become available.
medium-chain acyl-coa dehydrogenase deficiency
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): The impact of early diagnosis and screening on outcome.
medium-chain acyl-coa dehydrogenase deficiency
Newborn bloodspot screening in the UK--past, present and future.
medium-chain acyl-coa dehydrogenase deficiency
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
medium-chain acyl-coa dehydrogenase deficiency
Newborn mass screening versus selective investigation: benefits and costs.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for Medium Chain Acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening--is it really that simple?
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening: complexities in universal genetic testing.
medium-chain acyl-coa dehydrogenase deficiency
Normal rates of whole-body fat oxidation and gluconeogenesis after overnight fasting and moderate-intensity exercise in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
medium-chain acyl-coa dehydrogenase deficiency
Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus.
medium-chain acyl-coa dehydrogenase deficiency
Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
medium-chain acyl-coa dehydrogenase deficiency
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
medium-chain acyl-coa dehydrogenase deficiency
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
medium-chain acyl-coa dehydrogenase deficiency
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.
medium-chain acyl-coa dehydrogenase deficiency
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
medium-chain acyl-coa dehydrogenase deficiency
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
medium-chain acyl-coa dehydrogenase deficiency
Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Patients with Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency Have Impaired Oxidation of Fat During Exercise but No Effect of L-Carnitine Supplementation.
medium-chain acyl-coa dehydrogenase deficiency
Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat.
medium-chain acyl-coa dehydrogenase deficiency
Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
medium-chain acyl-coa dehydrogenase deficiency
Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
medium-chain acyl-coa dehydrogenase deficiency
Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.
medium-chain acyl-coa dehydrogenase deficiency
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).
medium-chain acyl-coa dehydrogenase deficiency
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
medium-chain acyl-coa dehydrogenase deficiency
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
medium-chain acyl-coa dehydrogenase deficiency
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.
medium-chain acyl-coa dehydrogenase deficiency
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Profiles in altered metabolism. IV--Induction of acute dicarboxylic aciduria following 2-octynoic acid administration to the rat.
medium-chain acyl-coa dehydrogenase deficiency
Projected costs, risks, and benefits of expanded newborn screening for MCADD.
medium-chain acyl-coa dehydrogenase deficiency
Prolonged moderate-intensity exercise without and with L: -carnitine supplementation in patients with MCAD deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
medium-chain acyl-coa dehydrogenase deficiency
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
medium-chain acyl-coa dehydrogenase deficiency
Quality assessment of urinary organic acid analysis.
medium-chain acyl-coa dehydrogenase deficiency
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
medium-chain acyl-coa dehydrogenase deficiency
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy.
medium-chain acyl-coa dehydrogenase deficiency
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
medium-chain acyl-coa dehydrogenase deficiency
Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.
medium-chain acyl-coa dehydrogenase deficiency
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme a dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.
medium-chain acyl-coa dehydrogenase deficiency
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Reduced incidence of severe metabolic crisis or death in children with medium chain acyl-CoA dehydrogenase deficiency homozygous for c.985A>G identified by neonatal screening.
medium-chain acyl-coa dehydrogenase deficiency
Regional variations in medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
medium-chain acyl-coa dehydrogenase deficiency
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
medium-chain acyl-coa dehydrogenase deficiency
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
medium-chain acyl-coa dehydrogenase deficiency
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
medium-chain acyl-coa dehydrogenase deficiency
Riboflavin-responsive multiple acyl coenzyme A dehydrogenase deficiency presenting as a proximal myopathy in a young adult.
medium-chain acyl-coa dehydrogenase deficiency
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .
medium-chain acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency is being evaluated.
medium-chain acyl-coa dehydrogenase deficiency
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
medium-chain acyl-coa dehydrogenase deficiency
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
Sleep induced abnormal motor behaviors caused by medium-chain acyl-CoA dehydrogenase deficiency: a case report.
medium-chain acyl-coa dehydrogenase deficiency
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Stable isotope dilution method for diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Successful perioperative management of a pediatric patient with medium-chain acyl-CoA dehydrogenase deficiency using a continuous tissue glucose monitoring device: A case report.
medium-chain acyl-coa dehydrogenase deficiency
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
medium-chain acyl-coa dehydrogenase deficiency
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.
medium-chain acyl-coa dehydrogenase deficiency
Supervised machine learning techniques for the classification of metabolic disorders in newborns.
medium-chain acyl-coa dehydrogenase deficiency
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
medium-chain acyl-coa dehydrogenase deficiency
Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Synthesis and tissue biodistribution of [omega-11C]palmitic acid. A novel PET imaging agent for cardiac fatty acid metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence.
medium-chain acyl-coa dehydrogenase deficiency
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
medium-chain acyl-coa dehydrogenase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
medium-chain acyl-coa dehydrogenase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
medium-chain acyl-coa dehydrogenase deficiency
Teaching intermediary metabolism linearly doesn't work.
medium-chain acyl-coa dehydrogenase deficiency
The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.
medium-chain acyl-coa dehydrogenase deficiency
The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy.
medium-chain acyl-coa dehydrogenase deficiency
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
medium-chain acyl-coa dehydrogenase deficiency
The differential diagnosis of dicarboxylic aciduria.
medium-chain acyl-coa dehydrogenase deficiency
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
medium-chain acyl-coa dehydrogenase deficiency
The epidemiology and health system impact of medium-chain acyl-coa dehydrogenase deficiency among affected children and those with false positive newborn screening results in ontario, Canada.
medium-chain acyl-coa dehydrogenase deficiency
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
medium-chain acyl-coa dehydrogenase deficiency
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
medium-chain acyl-coa dehydrogenase deficiency
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
medium-chain acyl-coa dehydrogenase deficiency
The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.
medium-chain acyl-coa dehydrogenase deficiency
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
medium-chain acyl-coa dehydrogenase deficiency
The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene.
medium-chain acyl-coa dehydrogenase deficiency
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.
medium-chain acyl-coa dehydrogenase deficiency
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
medium-chain acyl-coa dehydrogenase deficiency
The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.
medium-chain acyl-coa dehydrogenase deficiency
The role of the carnitine system in myocardial fatty acid oxidation: carnitine deficiency, failing mitochondria and cardiomyopathy.
medium-chain acyl-coa dehydrogenase deficiency
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.
medium-chain acyl-coa dehydrogenase deficiency
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
medium-chain acyl-coa dehydrogenase deficiency
The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Toxicity of octanoate and decanoate in rat peripheral tissues: evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle.
medium-chain acyl-coa dehydrogenase deficiency
Unraveling the mysteries of sudden infant death syndrome.
medium-chain acyl-coa dehydrogenase deficiency
Unveiling the Pathogenic Molecular Mechanisms of the Most Common Variant (p.K329E) in Medium-Chain Acyl-CoA Dehydrogenase Deficiency by in Vitro and in Silico Approaches.
medium-chain acyl-coa dehydrogenase deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
medium-chain acyl-coa dehydrogenase deficiency
Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method.
medium-chain acyl-coa dehydrogenase deficiency
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
medium-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
medium-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
medium-chain acyl-coa dehydrogenase deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
medium-chain acyl-coa dehydrogenase deficiency
Vitreous humour organic acids in medium chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
medium-chain acyl-coa dehydrogenase deficiency
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
medium-chain acyl-coa dehydrogenase deficiency
[Acyl coenzyme A dehydrogenase deficiency of medium-chain fatty acids in a 9-year-old boy with adymia. A rare mitochondrial cytopathy which may be more common than previously assumed]
medium-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
medium-chain acyl-coa dehydrogenase deficiency
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
medium-chain acyl-coa dehydrogenase deficiency
[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma]
medium-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
[Infant coma in emergency department: 2 cases of MCAD deficiency.]
medium-chain acyl-coa dehydrogenase deficiency
[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory]
medium-chain acyl-coa dehydrogenase deficiency
[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency]
medium-chain acyl-coa dehydrogenase deficiency
[Medium chain acyl-CoA dehydrogenase deficiency]
medium-chain acyl-coa dehydrogenase deficiency
[Medium-chain acyl-CoA dehydrogenase deficiency: contribution of molecular biology]
medium-chain acyl-coa dehydrogenase deficiency
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
medium-chain acyl-coa dehydrogenase deficiency
[Medium-chain acyl-CoA dehydrogenase deficiency]
medium-chain acyl-coa dehydrogenase deficiency
[Medium-chain acyl-coenzyme A dehydrogenase deficiency.]
medium-chain acyl-coa dehydrogenase deficiency
[New Inborn Errors of Metabolism added in the French program of neonatal screening].
medium-chain acyl-coa dehydrogenase deficiency
[Newborn Screening Program in the Community of Madrid: evaluation of positive cases.]
medium-chain acyl-coa dehydrogenase deficiency
[Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry].
medium-chain acyl-coa dehydrogenase deficiency
[Screening of newborn infants for medium-chain acyl-CoA dehydrogenase deficiency in Hungary]
medium-chain acyl-coa dehydrogenase deficiency
[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry]
medium-chain acyl-coa dehydrogenase deficiency
[Sudden and unexpected death in a young child. 'Crib death' in an older child]
medium-chain acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
medium-chain acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry as screening for inborn errors of metabolism].
medium-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
medium-chain acyl-coa dehydrogenase deficiency
[The phenylpropionate loading test and medium-chain acyl CoA dehydrogenase deficiency]
Metabolic Diseases
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Metabolic Diseases
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Metabolic Diseases
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
Metabolic Diseases
[Tandem mass spectrometry as screening for inborn errors of metabolism].
Metabolic Syndrome
Metabolic effects of RUBCN/Rubicon deficiency in kidney proximal tubular epithelial cells.
Metabolism, Inborn Errors
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
Metabolism, Inborn Errors
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Metabolism, Inborn Errors
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
Metabolism, Inborn Errors
Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
Metabolism, Inborn Errors
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Metabolism, Inborn Errors
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Metabolism, Inborn Errors
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
Metabolism, Inborn Errors
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Metabolism, Inborn Errors
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
Metabolism, Inborn Errors
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
Metabolism, Inborn Errors
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Metabolism, Inborn Errors
[Study of the inborn errors of mitochondrial fatty acid beta-oridation deficiency.]
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
methylcrotonoyl-coa carboxylase deficiency
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylcrotonoyl-coa carboxylase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
methylcrotonoyl-coa carboxylase deficiency
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
methylcrotonoyl-coa carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
methylcrotonoyl-coa carboxylase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
methylmalonyl-coa mutase deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Mevalonate Kinase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Mevalonate Kinase Deficiency
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.
Mitochondrial Diseases
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
A comparison of [9,10-3H]palmitic and [9,10-3H]myristic acids for the detection of defects of fatty acid oxidation in intact cultured fibroblasts.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
MR imaging findings of glutaric aciduria type II.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Oxidative damage in mitochondrial fatty acids oxidation disorders patients and the in vitro effect of l-carnitine on DNA damage induced by the accumulated metabolites.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Riboflavin-responsive multiple acyl coenzyme A dehydrogenase deficiency presenting as a proximal myopathy in a young adult.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Muscle Hypotonia
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Muscle Hypotonia
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Muscle Weakness
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Muscular Diseases
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
Muscular Diseases
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Muscular Diseases
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Muscular Diseases
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
Muscular Diseases
Riboflavin-responsive multiple acyl coenzyme A dehydrogenase deficiency presenting as a proximal myopathy in a young adult.
Myocardial Infarction
Beneficial effects of tender coconut water against isoproterenol induced toxicity on heart mitochondrial activities in rats.
Myoglobinuria
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
Neoplasm Metastasis
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Neoplasms
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Neoplasms
Fimasartan Ameliorates Nonalcoholic Fatty Liver Disease through PPAR? Regulation in Hyperlipidemic and Hypertensive Conditions.
Neoplasms
Increased lipid metabolism and cell turnover of MiaPaCa2 cells induced by high-fat diet in an orthotopic system.
Neoplasms
Integrated transcriptomic analysis of distance-related field cancerization in rectal cancer patients.
Neoplasms
Prognostic Value of the Overexpression of Fatty Acid Metabolism-Related Enzymes in Squamous Cell Carcinoma of the Head and Neck.
Neoplasms
Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.
Neoplasms
The roles of microbial products in the development of colorectal cancer: a review.
Neoplasms
Three novel hub genes and their clinical significance in clear cell renal cell carcinoma.
Neoplasms
[Medium-chain acyl-CoA dehydrogenase enhances invasion and metastasis ability of breast cancer cells].
Nephrotic Syndrome
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
Neuroblastoma
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Neuroblastoma
Quantitative Proteomics of Th-MYCN Transgenic Mice Reveals Aurora Kinase Inhibitor Altered Metabolic Pathways and Enhanced ACADM To Suppress Neuroblastoma Progression.
Neuronal Ceroid-Lipofuscinoses
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
Niemann-Pick Diseases
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Non-alcoholic Fatty Liver Disease
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Obesity
A high fat diet increases mitochondrial fatty acid oxidation and uncoupling to decrease efficiency in rat heart.
Obesity
Skeletal Muscle Characteristics of Rats with Obesity, Diabetes, Hypertension, and Hyperlipidemia.
ornithine carbamoyltransferase deficiency
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
ornithine carbamoyltransferase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Ornithine Carbamoyltransferase Deficiency Disease
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Pancreatitis
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication.
peptidyl-glutamate 4-carboxylase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
peptidyl-glutamate 4-carboxylase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
peptidyl-glutamate 4-carboxylase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Perinatal Death
A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death.
Perinatal Death
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Perinatal Death
Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.
Phenylketonurias
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
Phenylketonurias
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Phenylketonurias
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Phenylketonurias
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Phenylketonurias
Economics of tandem mass spectrometry screening of neonatal inherited disorders.
Phenylketonurias
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Phenylketonurias
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Phenylketonurias
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Phenylketonurias
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Phenylketonurias
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain.
Phenylketonurias
Neonatal Screening for Congenital Metabolic and Endocrine DisordersResults From Germany for the Years 20062018
Phenylketonurias
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Phenylketonurias
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Phenylketonurias
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Phenylketonurias
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Phenylketonurias
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Phenylketonurias
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Phenylketonurias
[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
Phenylketonurias
[New Inborn Errors of Metabolism added in the French program of neonatal screening].
Phenylketonurias
[Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry].
Precancerous Conditions
A signature of six genes highlights defects on cell growth and specific metabolic pathways in murine and human hepatocellular carcinoma.
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Propionic Acidemia
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Propionic Acidemia
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
Propionic Acidemia
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Propionic Acidemia
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.
Propionic Acidemia
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Propionic Acidemia
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy.
Propionic Acidemia
High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4'-bromophenacyl trifluoromethanesulfonate.
Propionic Acidemia
Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications.
Propionic Acidemia
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Propionic Acidemia
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Propionic Acidemia
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
Propionic Acidemia
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
Propionic Acidemia
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Propionic Acidemia
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Propionic Acidemia
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Propionic Acidemia
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Protein Deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Protein Deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Rett Syndrome
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Reye Syndrome
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.
Reye Syndrome
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
Reye Syndrome
Evidence that antioxidants prevent the inhibition of Na+,K(+)-ATPase activity induced by octanoic acid in rat cerebral cortex in vitro.
Reye Syndrome
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Reye Syndrome
Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan.
Reye Syndrome
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
Reye Syndrome
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.
Reye Syndrome
Medium-chain acyl-CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome.
Reye Syndrome
Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.
Reye Syndrome
Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.
Reye Syndrome
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Reye Syndrome
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
Reye Syndrome
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.
Reye Syndrome
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
Reye Syndrome
[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in 2 patients with symptoms of Reye syndrome]
Rhabdomyolysis
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Riboflavin Deficiency
Sudden death of chicken embryos with hereditary riboflavin deficiency.
Seizures
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
Seizures
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Sepsis
Identification of differentially expressed genes associated with burn sepsis using microarray.
Severe Combined Immunodeficiency
The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain acyl-coa dehydrogenase deficiency
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
short-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
short-chain acyl-coa dehydrogenase deficiency
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
short-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program.
short-chain acyl-coa dehydrogenase deficiency
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
short-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
short-chain acyl-coa dehydrogenase deficiency
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
short-chain acyl-coa dehydrogenase deficiency
[Tandem mass spectrometry analysis and genetic diagnosis of neonates with fatty acid oxidation disorders in central and northern regions of Guangxi].
sterol esterase deficiency
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Tachycardia
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Tachycardia, Ventricular
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Tachycardia, Ventricular
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Tachycardia, Ventricular
Sweet and Sour Aspects of Medium-Chain Acyl CoA Dehydrogenase Deficiency. Commentary on K. Yusuf et al.: Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency (Neonatology 2010;98:260-264).
Thrombocytopenia
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Tuberculosis
Mycobacterium tuberculosis Cholesterol Catabolism Requires a New Class of Acyl Coenzyme A Dehydrogenase.
Tuberculosis
Shrinking the FadE Proteome of Mycobacterium tuberculosis: Insights into Cholesterol Metabolism through Identification of an ?2?2 Heterotetrameric Acyl Coenzyme A Dehydrogenase Family.
Tyrosinemias
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
Tyrosinemias
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
Tyrosinemias
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Urea Cycle Disorders, Inborn
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Ventricular Dysfunction
Fatty acid utilization in the hypertrophied and failing heart: molecular regulatory mechanisms.
very-long-chain acyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
very-long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
very-long-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
very-long-chain acyl-coa dehydrogenase deficiency
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
very-long-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Wolman Disease
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Zellweger Syndrome
Conversion of eicosapentaenoic acid to chain-shortened omega-3 fatty acid metabolites by peroxisomal oxidation.
Zellweger Syndrome
Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome.
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