Disease on EC 1.3.8.7 - medium-chain acyl-CoA dehydrogenase

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DISEASE
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2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
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.
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.
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
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.
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
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Anesthetic considerations for a patient with compound heterozygous 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.
Clinical and molecular aspects of Japanese children with 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.
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.
Complementation analysis of fatty acid oxidation disorders.
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
Determination of medium chain fatty acids in serum.
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.
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn.
DNA techniques for screening of inborn errors of metabolism.
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Fatty Acid Beta-Oxidation Disorders: A Brief Review.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with 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.
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.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity.
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.
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.
Metabolic encephalopathy in Egyptian children.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.
Mutations in medium chain acyl-CoA dehydrogenase deficiency.
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
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.
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Perforated duodenal ulcer disclosing medium chain acyl-CoA dehydrogenase deficiency.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
Quality assessment of urinary organic acid analysis.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
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.
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .
Screening for medium chain acyl-CoA dehydrogenase deficiency is being evaluated.
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
Stable isotope dilution method for diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
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).
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
The differential diagnosis of dicarboxylic aciduria.
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
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.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency.
Vitreous humour organic acids in 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]
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory]
[Medium chain acyl-CoA dehydrogenase deficiency. Apropos of a case with demonstration of this enzyme deficiency]
[Medium chain acyl-CoA dehydrogenase deficiency]
[Sudden and unexpected death in a young child. 'Crib death' in an older child]
Adenocarcinoma
Identification of defensin alpha6 as a potential biomarker in colon adenocarcinoma.
Adenoma
Defensin alpha 6 (DEFA 6) overexpression threshold of over 60 fold can distinguish between adenoma and fully blown colon carcinoma in individual patients.
Adenomatous Polyposis Coli
Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli.
Adrenal Hyperplasia, Congenital
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Comprehensive cost-utility analysis of newborn screening strategies.
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Expanded newborn screening in Greece: 30 months of experience.
Introduction to the newborn screening fact sheets.
Neonatal screening in Europe; the situation in 2004.
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
Newborn screening fact sheets.
Newborn screening.
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.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Alzheimer Disease
Relevance of defensin ?-2 and ? defensins (HNP1-3) in Alzheimer's disease.
Anemia, Sickle Cell
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
Apnea
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
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.
Asthma
Association of defensin beta-1 gene polymorphisms with asthma.
Bacterial Infections
Defensin from disk abalone Haliotis discus discus: molecular cloning, sequence characterization and immune response against bacterial infection.
Keratinocyte expression of human beta defensin 2 following bacterial infection: role in cutaneous host defense.
Biotinidase Deficiency
A systematic review of evidence for the appropriateness of neonatal screening programmes for inborn errors of metabolism.
Comprehensive cost-utility analysis of newborn screening strategies.
Expanded newborn screening in Greece: 30 months of experience.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Introduction to the newborn screening fact sheets.
Neonatal screening in Europe; the situation in 2004.
Newborn screening fact sheets.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Blister
Human beta defensin is absent in burn blister fluid.
Brain Diseases
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Fat oxidation defect presenting with overwhelming ketonuria.
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency.
Inhibition of energy metabolism in cerebral cortex of young rats by the medium-chain fatty acids accumulating in MCAD deficiency.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus.
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Breast Neoplasms
Caspase-1 cleaves PPAR? for potentiating the pro-tumor action of TAMs.
Challenging metastatic breast cancer with the natural defensin PvD
The defensin from avocado (Persea americana var. drymifolia) PaDef induces apoptosis in the human breast cancer cell line MCF-7.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Candidiasis
In vitro activity of the antifungal plant defensin RsAFP2 against Candida isolates and its in vivo efficacy in prophylactic murine models of candidiasis.
Candidiasis, Oral
Dynamic changes of Th1/Th2/Th17 cytokines and human beta defensin 2 in HIV-infected patients with oral candidiasis during the first year of highly active anti-retroviral therapy.
Carcinoma
Defensin alpha 6 (DEFA 6) overexpression threshold of over 60 fold can distinguish between adenoma and fully blown colon carcinoma in individual patients.
Effect of defensin peptides on eukaryotic cells: primary epithelial cells, fibroblasts and squamous cell carcinoma cell lines.
Expression profile of drosomycin-like defensin in oral epithelium and oral carcinoma cell lines.
Presence of defensin in epithelial Langerhans cells adjacent to oral carcinomas and precancerous lesions.
Carcinoma, Squamous Cell
Effect of defensin peptides on eukaryotic cells: primary epithelial cells, fibroblasts and squamous cell carcinoma cell lines.
Cardiomegaly
Fatty acid utilization in the hypertrophied and failing heart: molecular regulatory mechanisms.
Cardiomyopathies
Cardiomyocyte-Specific Ablation of Med1 Subunit of the Mediator Complex Causes Lethal Dilated Cardiomyopathy in Mice.
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
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.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
Cardiovascular Diseases
Cardiovascular disease and serum defensin levels in systemic lupus erythematosus.
carnitine o-palmitoyltransferase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
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.
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Chagas Disease
Cellular Response to Trypanosoma cruzi infection induces Secretion of Defensin ?-1, Which Damages the Flagellum, Neutralizes Trypanosome Motility and Inhibits Infection.
Isolation and characterization of a novel insect defensin from Rhodnius prolixus, a vector of Chagas disease.
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Cholesteatoma
Association between human beta defensin expression and cholesteatoma formation.
Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma.
Cholesteatoma, Middle Ear
Differential expression of human beta defensin 2 and human beta defensin 3 in human middle ear cholesteatoma.
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.
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Colitis, Ulcerative
Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli.
Coma
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in 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 causes unexplained coma in a 10-year-old child.
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
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.
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile 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.
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
Newborn screening.
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
Crohn Disease
Abnormal Pap smears in women with Crohn's disease: is there a role for defensin deficiency?
Barrier dysfunction due to distinct defensin deficiencies in small intestinal and colonic Crohn's disease.
Crohn's disease: a defensin deficiency syndrome?
Decreased Paneth cell defensin expression in ileal Crohn's disease is independent of inflammation, but linked to the NOD2 1007fs genotype.
Defensin deficiency, intestinal microbes, and the clinical phenotypes of Crohn's disease.
Host-microbe interaction: mechanisms of defensin deficiency in Crohn's disease.
Influence of standard treatment on ileal and colonic antimicrobial defensin expression in active Crohn's disease.
cystathionine beta-synthase deficiency
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Cystic Fibrosis
Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Expanded newborn screening in Greece: 30 months of experience.
Expression of human beta defensin (HBD-1 and HBD-2) mRNA in nasal epithelia of adult cystic fibrosis patients, healthy individuals, and individuals with acute cold.
Introduction to the newborn screening fact sheets.
Neonatal screening in Europe; the situation in 2004.
Newborn screening fact sheets.
Newborn screening.
Newborn screening: complexities in universal genetic testing.
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
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.
Dementia
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Dermatitis, Atopic
IL-33 Modulates the Expression of Human Beta Defensin 2 in Human Primary Keratinocytes and may influence the susceptibility to bacterial superinfection in acute atopic dermatitis.
Intestinal defensin secretion in infancy is associated with the emergence of sensitization and atopic dermatitis.
Diabetic Neuropathies
Impact of Low-Frequency Pulsed Magnetic Fields on Defensin and CRP Concentrations in Patients with Painful Diabetic Polyneuropathy and in Healthy Subjects.
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)]
Endometritis
Association between elevated neutrophil defensin levels and endometritis.
Enterocolitis, Necrotizing
Enteric defensin expression in necrotizing enterocolitis.
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
Comprehensive cost-utility analysis of newborn screening strategies.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Newborn screening fact sheets.
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Gastritis
Defensin pattern in chronic gastritis: HBD-2 is differentially expressed with respect to Helicobacter pylori status.
Genetic Diseases, Inborn
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients.
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.
glutaryl-coa dehydrogenase (etf) deficiency
Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases.
Newborn screening.
Glycogen Storage Disease
A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
Flux analysis of inborn errors of metabolism.
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency.
Glycogen Storage Disease Type I
Flux analysis of inborn errors of metabolism.
Hearing Loss
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
Heart Arrest
Gene variants predisposing to SIDS: current knowledge.
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.
Hemoglobinopathies
Newborn screening fact sheets.
Hepatitis
Administration of Poly[di(sodium carboxylatoethylphenoxy)phosphazene] (PCEP) and Avian Beta Defensin as Adjuvants in Inactivated Inclusion Body Hepatitis Virus and its Hexon Protein-Based Experimental Vaccine Formulations in Chickens.
Hepatitis B
A Scorpion Defensin BmKDfsin4 Inhibits Hepatitis B Virus Replication in Vitro.
HIV Infections
Are defensin beta 1 gene polymorphisms associated with HIV infection and virus replication?
Chronic HIV infection is associated with upregulation of pro-inflammatory cytokine and chemokine and alpha defensin gene expression in colorectal mucosa.
Copy number variation of defensin genes and HIV infection in Brazilian children.
Homocystinuria
Arguments for early screening: a clinician's perspective.
Comprehensive cost-utility analysis of newborn screening strategies.
Newborn screening fact sheets.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[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.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
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.
Identification of two novel mutations in the hypoglycemic phenotype of very long 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.
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Mitochondrial bioactivation of cysteine S-conjugates and 4-thiaalkanoates: implications for mitochondrial dysfunction and mitochondrial diseases.
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
Neonatal Ventricular Tachyarrhythmias in 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.
Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
[Medium-chain acyl-CoA dehydrogenase defect. Acute cerebral episodes and nonketotic hypoglycemia in children]
[Severe hypoglycemia and clouding of consciousness caused by deficiency of the connecting link acyl CoA dehydrogenase]
Infection
A comparative study of intraoperative frozen section and alpha defensin lateral flow test in the diagnosis of periprosthetic joint infection.
A Novel Bacteriophage Lysin-Human Defensin Fusion Protein Is Effective in Treatment of Clostridioides difficile Infection in Mice.
Alpha Defensin Lateral Flow Test for Diagnosis of Periprosthetic Joint Infection: Not a Screening but a Confirmatory Test.
Alpha defensin, leukocyte esterase, C-reactive protein, and leukocyte count in synovial fluid for pre-operative diagnosis of periprosthetic infection.
Antimicrobial peptide gene cecropin-2 and defensin respond to peptidoglycan infection in the female adult of oriental fruit fly, Bactrocera dorsalis (Hendel).
Bacterial feeding, Leishmania infection and distinct infection routes induce differential defensin expression in Lutzomyia longipalpis.
Cellular Response to Trypanosoma cruzi infection induces Secretion of Defensin ?-1, Which Damages the Flagellum, Neutralizes Trypanosome Motility and Inhibits Infection.
Clinical Evaluation of Synovial Alpha Defensin and Synovial C-Reactive Protein in the Diagnosis of Periprosthetic Joint Infection.
Diagnostic Accuracy of the Alpha Defensin Lateral Flow Device (Synovasure™) for Periprosthetic Infections in Microbiologically Complex Situations: A Study of 42 Cases in a French Referral Centre.
Differential expression and in situ localization of a pepper defensin (CADEF1) gene in response to pathogen infection, abiotic elicitors and environmental stresses in Capsicum annuum.
Forkhead box transcription factor regulation and lipid accumulation by hepatitis C virus.
High-Fidelity Point-of-Care Diagnostic Test for Periprosthetic Joint Infection: Commentary on an article by Thorsten Gehrke, MD, et al.: "The Accuracy of the Alpha Defensin Lateral Flow Device for Diagnosis of Periprosthetic Joint Infection. Comparison with a Gold Standard".
Infection: It's a Numbers Game: Commentary on an article by William Z. Stone, MD, et al.: "Clinical Evaluation of Synovial Alpha Defensin and Synovial C-Reactive Protein in the Diagnosis of Periprosthetic Joint Infection".
Oesophageal defensin expression during Candida infection and reflux disease.
Serum free carnitine in medium chain acyl-CoA dehydrogenase deficiency.
Silencing expression of the defensin, varisin, in male Dermacentor variabilis by RNA interference results in reduced Anaplasma marginale infections.
The Accuracy of the Alpha Defensin Lateral Flow Device for Diagnosis of Periprosthetic Joint Infection: Comparison with a Gold Standard.
The role of alpha defensin in prosthetic joint infection (PJI) diagnosis: a literature review.
Uropathogenic Escherichia coli (UPEC) induced antimicrobial gene expression in the male reproductive tract of rat: evaluation of the potential of Defensin 21 to limit infection.
[Effect of human beta defensin 2 on Staphylococcus aureus infection: in vivo study with transgenic mice]
Infertility
A Common Mutation in the Defensin DEFB126 Causes Impaired Sperm Function and Subfertility.
Male factor infertility: Mutation of sperm defensin causes subfertility.
Re: a common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.
Inflammatory Bowel Diseases
Correction: Human alpha defensin 5 is a candidate biomarker to delineate inflammatory bowel disease.
Human alpha defensin 5 is a candidate biomarker to delineate inflammatory bowel disease.
Human defensin 5 is stored in precursor form in normal Paneth cells and is expressed by some villous epithelial cells and by metaplastic Paneth cells in the colon in inflammatory bowel disease.
Single nucleotide polymorphisms in human Paneth cell defensin A5 may confer susceptibility to inflammatory bowel disease in a New Zealand Caucasian population.
Influenza, Human
A Kampo (traditional Japanese herbal) medicine, Hochuekkito, pretreatment in mice prevented influenza virus replication accompanied with GM-CSF expression and increase in several defensin mRNA levels.
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.
Ketosis
Fat oxidation defect presenting with overwhelming ketonuria.
Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency.
Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
Leigh Disease
Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
Leishmaniasis
Bacterial feeding, Leishmania infection and distinct infection routes induce differential defensin expression in Lutzomyia longipalpis.
Leptospirosis
Urine Levels of Defensin ?1 Reflect Kidney Injury in Leptospirosis Patients.
Lethargy
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Neonatal Ventricular Tachyarrhythmias in Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
Leukemia
Assessment of the cellular response to the induced expression of defensin sense and antisense cDNA in acute promyelocytic leukemia cell lines.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
PaDef defensin from avocado (Persea americana var. drymifolia) is cytotoxic to K562 chronic myeloid leukemia cells through extrinsic apoptosis.
Leukemia, Myeloid
Distinct temporal patterns of defensin mRNA regulation during drug-induced differentiation of human myeloid leukemia cells.
Leukemia, Promyelocytic, Acute
Assessment of the cellular response to the induced expression of defensin sense and antisense cDNA in acute promyelocytic leukemia cell lines.
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 QT Syndrome
Gene variants predisposing to SIDS: current knowledge.
long-chain acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Metabolic encephalopathy in Egyptian children.
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
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.
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Lupus Erythematosus, Systemic
Cardiovascular disease and serum defensin levels in systemic lupus erythematosus.
Lyme Disease
Defensin from the ornate sheep tick Dermacentor marginatus and its effect on Lyme borreliosis spirochetes.
Malaria
Molecular and phylogenetic analysis of a novel salivary defensin cDNA from malaria vector Anopheles stephensi.
The defensin peptide of the malaria vector mosquito Anopheles gambiae: antimicrobial activities and expression in adult mosquitoes.
The malaria vector mosquito Anopheles gambiae expresses a suite of larval-specific defensin genes.
Maple Syrup Urine Disease
Comprehensive cost-utility analysis of newborn screening strategies.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Quality assessment of urinary organic acid analysis.
Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
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.
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.
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency.
A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders.
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.
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.
A new simple screening method for the diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
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.
A retrospective review of anesthesia and perioperative care in children with medium-chain acyl-CoA dehydrogenase deficiency.
A simple screening test for medium-chain acyl CoA dehydrogenase deficiency.
A successful strategy for preimplantation diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
A survey of Japanese patients with mitochondrial fatty acid beta-oxidation and related disorders as detected from 1985 to 2000.
Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.
Abnormal urinary excretion of unsaturated dicarboxylic acids in patients with 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.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Adult presentations of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry.
An accurate and sensitive assay of [14C]octanoate oxidation and its application on tissue homogenates and fibroblasts.
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Anaesthesia and medium-chain acyl CoA dehydrogenase deficiency.
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
Analysis of acylcarnitines as their N-demethylated ester derivatives by gas chromatography-chemical ionization mass spectrometry.
Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects.
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
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.
Anesthesia in a child with medium-chain Acyl-CoA dehydrogenase deficiency.
Anesthetic considerations for a patient with compound heterozygous 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.
Arguments for early screening: a clinician's perspective.
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children.
Assay of acyl-CoA dehydrogenase activity in frozen muscle biopsies: application to 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.
Audit of acute hypoglycaemia in children: re-audit of procedures for diagnosis.
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
Biosynthesis of variant medium chain acyl-CoA dehydrogenase in cultured fibroblasts from patients with medium chain acyl-CoA dehydrogenase deficiency.
Birth Prevalence of Fatty Acid ?-Oxidation Disorders in Iberia.
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients.
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with 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.
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency.
Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.
cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical and molecular aspects of Japanese children with 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.
Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD).
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long 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.
Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.
Complementation analysis of fatty acid oxidation disorders.
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Comprehensive cost-utility analysis of newborn screening strategies.
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.
Cost-effectiveness analysis of universal newborn screening for medium chain acyl-CoA dehydrogenase deficiency in France.
Cost-effectiveness of neonatal screening for medium chain acyl-CoA dehydrogenase deficiency: the homogeneous population of The Netherlands.
Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.
Cytochrome c oxidase deficiency and long-chain acyl coenzyme A dehydrogenase deficiency with Leigh's subacute necrotizing encephalomyelopathy.
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Data required for the evaluation of newborn screening programmes.
Decreased fasting free fatty acids with L-carnitine in children with carnitine deficiency.
Delayed diagnosis of fatal medium-chain acyl-CoA dehydrogenase deficiency in a child.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip.
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
Determination of medium chain fatty acids in serum.
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.
Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots.
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.
Diagnosis of medium chain acyl-CoA dehydrogenase deficiency in the newborn.
Diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in lymphocytes and liver by a gas chromatographic method: the effect of oral riboflavin supplementation.
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.
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the 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.
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death.
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in 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.
DNA techniques for screening of inborn errors of metabolism.
Dysferlinopathy and very-long-chain acyl coenzyme A dehydrogenase deficiency segregating in the same family.
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency.
Effects of pivalic acid-containing prodrugs on carnitine homeostasis and on response to fasting in children.
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
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.
Erratum to: Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency.
Estimation of the incidence of a rare genetic disease through a two-tier mutation survey.
Ethnicity of children with homozygous c.985A>G medium-chain acyl-CoA dehydrogenase deficiency: findings from screening approximately 1.1 million newborn infants.
Evaluating newborn screening programmes based on dried blood spots: future challenges.
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Evidence for intermediate channeling in mitochondrial beta-oxidation.
Evidence for marsh mallow (Malva parviflora) toxicosis causing myocardial disease and myopathy in four horses.
Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain.
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Expanded newborn screening in Greece: 30 months of experience.
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
Expanded newborn screening: reducing harm, assessing benefit.
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD).
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Extended newborn screening: an update for the general paediatrician.
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Fat oxidation defect presenting with overwhelming ketonuria.
Fatty Acid Beta-Oxidation Disorders: A Brief Review.
Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients.
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
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.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Fatty infiltration in the liver in 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.
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.
Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China.
Flux analysis of inborn errors of metabolism.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.
Frequency of medium-chain acyl-CoA dehydrogenase deficiency G-985 mutation in sudden infant death syndrome.
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
Gene variants predisposing to SIDS: current knowledge.
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes.
Genetic disorders of mitochondrial fatty acid oxidation.
Healthcare use and costs of medium-chain acyl-CoA dehydrogenase deficiency in Australia: screening versus no screening.
Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population.
High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4'-bromophenacyl trifluoromethanesulfonate.
Historical perspective of medium-chain acyl-CoA dehydrogenase deficiency: a decade of discovery.
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.
Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency.
Hyperuricemia in medium-chain acyl-coenzyme A dehydrogenase deficiency.
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Identification of a novel mutation in patients with 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.
Identification of phenylpropionylcarnitine, a new metabolite of phenylpropionic acid, in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications.
Immunochemical characterization of variant medium-chain acyl-CoA dehydrogenase in fibroblasts from patients with medium-chain acyl-CoA dehydrogenase deficiency.
Immunoreactive enzyme protein in medium-chain acyl-CoA dehydrogenase deficiency.
Impaired folding and subunit assembly as disease mechanism: the example of 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.
In vitro correction of medium chain acyl CoA dehydrogenase deficiency with a recombinant adenoviral vector.
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.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany.
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.
Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome.
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
International perspectives on newborn screening.
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia.
Introduction to the newborn screening fact sheets.
Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?
Ketogenic diet.
Ketonuria and medium-chain acyl-CoA dehydrogenase deficiency.
L-carnitine: therapeutic strategy for metabolic encephalopathy.
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system.
Lactic acidosis in long-chain fatty acid beta-oxidation disorders.
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Late presentation of medium-chain acyl-CoA dehydrogenase deficiency.
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency.
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency.
Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.
MCAD deficiency in Denmark.
Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.
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 and fatal valproate toxicity.
Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12.
Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening.
Medium chain acyl-CoA dehydrogenase deficiency human genome epidemiology review.
Medium chain acyl-CoA dehydrogenase deficiency in a premature infant.
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies.
Medium chain acyl-CoA dehydrogenase deficiency in the United Kingdom.
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: electron microscopic differentiation from Reye syndrome.
Medium-chain acyl CoA dehydrogenase deficiency: Its relationship to SIDS and the impact on genetic counseling.
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father.
Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.
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 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 in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in an Infant with Dilated Cardiomyopathy.
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Gene-Targeted Mice.
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.
Medium-chain acyl-CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome.
Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.
Medium-chain Acyl-CoA dehydrogenase deficiency presenting with neonatal pulmonary haemorrhage.
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: a 1H-n.m.r. spectroscopic study.
Medium-chain acyl-CoA dehydrogenase deficiency: a case presentation.
Medium-chain acyl-CoA dehydrogenase deficiency: a useful diagnosis five years after death.
Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects.
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: sudden and unexpected death of a 45 year old woman.
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child.
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain.
Metabolic deficiencies and SIDS.
Metabolic encephalopathy in Egyptian children.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
Molecular analysis of medium chain acyl-CoA dehydrogenase deficiency.
Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.
Molecular and functional characterisation of mild MCAD deficiency.
Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.
Molecular basis of isovaleric acidemia and medium-chain acyl-CoA dehydrogenase deficiency.
Molecular basis of mitochondrial fatty acid oxidation defects.
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.
Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death.
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.
Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay.
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency.
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency.
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate.
Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France.
Mouse models for disorders of mitochondrial fatty acid beta-oxidation.
MR imaging findings of glutaric aciduria type II.
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month.
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder.
Muscle strength in children with 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.
Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency.
Mutations in medium chain acyl-CoA dehydrogenase deficiency.
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.
Neonatal onset of medium-chain acyl-CoA dehydrogenase deficiency in two siblings.
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features.
Neonatal presentation of medium-chain acyl-CoA dehydrogenase deficiency in two families.
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.
Neonatal screening in Europe; the situation in 2004.
Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.
Neonatal Ventricular Tachyarrhythmias in 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.
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): The impact of early diagnosis and screening on outcome.
Newborn bloodspot screening in the UK--past, present and future.
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Newborn mass screening versus selective investigation: benefits and costs.
Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis.
Newborn screening fact sheets.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Newborn screening for Medium Chain Acyl CoA dehydrogenase deficiency.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in the UK.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome.
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: performance improvement by monitoring a new ratio.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Newborn screening with tandem mass spectrometry: examining its cost-effectiveness in the Wisconsin Newborn Screening Panel.
Newborn screening--is it really that simple?
Newborn screening.
Newborn screening: complexities in universal genetic testing.
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.
Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.
Novel magnetic resonance imaging findings in a patient with short 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.
Octanoic acid produces accumulation of monoamine acidic metabolites in the brain: interaction with organic anion transport at the choroid plexus.
Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
Oligonucleotide ligation assay: applications to molecular diagnosis of inherited disorders.
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis.
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.
Oxidative stress induction by cis-4-decenoic acid: relevance for MCAD deficiency.
Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Pantothenic acid in health and disease.
Parental Experiences of Raising a Child With 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.
Perforated duodenal ulcer disclosing 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.
Plasma cis-dec-4-enoic acid measured by isotope dilution mass spectrometry; an improved assay to diagnose medium-chain acyl-CoA dehydrogenase deficiency.
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system.
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for 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).
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase deficiency in family with sudden infant death.
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency.
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome.
Production and disposal of medium-chain fatty acids in children with medium-chain acyl-CoA dehydrogenase deficiency.
Profiles in altered metabolism. IV--Induction of acute dicarboxylic aciduria following 2-octynoic acid administration to the rat.
Projected costs, risks, and benefits of expanded newborn screening for MCADD.
Prolonged moderate-intensity exercise without and with L: -carnitine supplementation in patients with MCAD deficiency.
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK.
Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening.
Pseudo-glutarylcarnitinaemia in medium-chain acyl-CoA dehydrogenase deficiency detected by tandem mass spectrometry newborn screening.
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Quality assessment of urinary organic acid analysis.
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.
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy.
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma.
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme a dehydrogenase deficiency.
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A 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.
Regional variations in medium-chain acyl-CoA dehydrogenase deficiency.
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for 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).
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life.
Retrospective diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.
Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency.
Reye syndrome and reye-like syndrome.
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Riboflavin-responsive multiple acyl coenzyme A dehydrogenase deficiency presenting as a proximal myopathy in a young adult.
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated. .
Screening for medium chain acyl-CoA dehydrogenase deficiency is being evaluated.
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
Screening newborns for inborn errors of metabolism by tandem mass spectrometry.
Screening newborns for multiple organic acidurias in dried filter paper urine samples: method development.
Selective screening for fatty acid oxidation disorders by tandem mass spectrometry: difficulties in practical discrimination.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
Sequencing from dried blood spots in infants with "false positive" newborn screen for MCAD deficiency.
Serum free carnitine in 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.
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
Sleep induced abnormal motor behaviors caused by medium-chain acyl-CoA dehydrogenase deficiency: a case report.
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
Stable isotope dilution method for diagnosis of medium chain acyl-CoA dehydrogenase deficiency.
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening.
Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.
Supervised machine learning techniques for the classification of metabolic disorders in newborns.
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).
Synthesis and characterisation of acyl glycines. Their measurement in single blood spots by gas chromatography-mass spectrometry to diagnose inborn errors of metabolism.
Synthesis and tissue biodistribution of [omega-11C]palmitic acid. A novel PET imaging agent for cardiac fatty acid metabolism.
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence.
Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.
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.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Teaching intermediary metabolism linearly doesn't work.
The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy.
The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy.
The clinical manifestation of MCAD deficiency: challenges towards adulthood in the screened population.
The differential diagnosis of dicarboxylic aciduria.
The Domain-Specific and Temperature-Dependent Protein Misfolding Phenotype of Variant Medium-Chain acyl-CoA Dehydrogenase.
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.
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.
The HELLP syndrome associated wiht fetal medium-chain acyl-CoA dehydrogenase deficiency.
The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.
The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.
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.
The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome.
The phenylpropionic acid load test: experience with 72 children at-risk for beta-oxidation disorders.
The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.
The role of the carnitine system in myocardial fatty acid oxidation: carnitine deficiency, failing mitochondria and cardiomyopathy.
The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
The use of phenylpropionic acid as a loading test for 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.
Unraveling the mysteries of sudden infant death syndrome.
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.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
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.
Vacuolation of neutrophils and acanthocytosis in child with medium chain acyl-CoA dehydrogenase deficiency.
Validation of MCADD newborn screening.
Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery.
Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria.
Vitreous humour organic acids in 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.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
[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]
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Deficiency in medium chain acyl coA dehydrogenase manifested as febrile coma]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Infant coma in emergency department: 2 cases of MCAD deficiency.]
[Medium chain Acyl-Coa Dehydrogenase deficiency. A diagnostic challenge for clinicians and laboratory]
[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: contribution of molecular biology]
[Medium-chain acyl-CoA dehydrogenase deficiency: neonatal screening and follow-uP].
[Medium-chain acyl-CoA dehydrogenase deficiency]
[Medium-chain acyl-coenzyme A dehydrogenase deficiency.]
[Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry].
[Reye syndrome and Reye-like syndrome].
[Screening of newborn infants for medium-chain acyl-CoA dehydrogenase deficiency in Hungary]
[Screening of newborns for inborn errors of metabolism by tandem mass spectrometry]
[Sudden and unexpected death in a young child. 'Crib death' in an older child]
[Tandem mass spectrometry as screening for inborn errors of metabolism].
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
[The phenylpropionate loading test and medium-chain acyl CoA dehydrogenase deficiency]
Meningitis
Levels of antimicrobial molecules defensin and lactoferrin are elevated in the cerebrospinal fluid of children with meningitis.
Meningitis, Bacterial
Plasma defensin concentrations are elevated in patients with septicemia or bacterial meningitis.
Metabolic Diseases
Data mining methods for classification of Medium-Chain Acyl-CoA dehydrogenase deficiency (MCADD) using non-derivatized tandem MS neonatal screening data.
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency.
[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation]
[Neonatal screening for metabolic diseases: need for efficacy studies]
[Tandem mass spectrometry as screening for inborn errors of metabolism].
Metabolism, Inborn Errors
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Determination of medium chain acyl-CoA dehydrogenase activity in cultured skin fibroblasts using mass spectrometry.
Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
Expanded newborn metabolic screening programme in Hong Kong: a three-year journey.
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Medium-chain acyl-CoA dehydrogenase deficiency.
Medium-chain acyl-CoA dehydrogenase deficiency: metabolic effects and therapeutic efficacy of long-term L-carnitine supplementation.
Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
The changing face of disorders of fatty acid oxidation.
The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update.
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[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).
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.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
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.
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.
monodehydroascorbate reductase (nadh) deficiency
Barrier dysfunction due to distinct defensin deficiencies in small intestinal and colonic Crohn's disease.
Crohn's disease: a defensin deficiency syndrome?
Defensin deficiency, intestinal microbes, and the clinical phenotypes of Crohn's disease.
Host-microbe interaction: mechanisms of defensin deficiency in Crohn's disease.
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.
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children.
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Favorable outcome after physiologic dose of sodium-D,L-3-hydroxybutyrate in severe MADD.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Fulminant lipid storage myopathy due to 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.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome.
MR imaging findings of glutaric aciduria type II.
Multiple Acyl CoA dehydrogenase deficiency: Uncommon yet treatable disorder.
Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation.
Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies.
Riboflavin-responsive multiple acyl coenzyme A dehydrogenase deficiency presenting as a proximal myopathy in a young adult.
Screening for fatty acid beta oxidation disorders. Acylglycine analysis by electron impact ionization gas chromatography-mass spectrometry.
Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients.
The anesthetic management of ventricular septal defect (VSD) repair in a child with mitochondrial cytopathy.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
[A case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)]
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
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.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Muscle Weakness
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Myopathies caused by disorders of lipid metabolism.
Muscular Diseases
Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Fatty acid oxidation defects presenting as primary myopathy and prominent dropped head syndrome.
Fulminant lipid storage myopathy due to multiple acyl-coenzyme a dehydrogenase deficiency.
Late onset lipid storage myopathy due to multiple acyl CoA dehydrogenase deficiency triggered by valproate.
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency.
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.
Neoplasms
Caspase-1 cleaves PPAR? for potentiating the pro-tumor action of TAMs.
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Fimasartan Ameliorates Nonalcoholic Fatty Liver Disease through PPAR? Regulation in Hyperlipidemic and Hypertensive Conditions.
Increased lipid metabolism and cell turnover of MiaPaCa2 cells induced by high-fat diet in an orthotopic system.
Integrated transcriptomic analysis of distance-related field cancerization in rectal cancer patients.
Nicotiana alata defensin chimeras reveal differences in the mechanism of fungal and tumour cell killing and an enhanced antifungal variant.
Pantothenic acid in health and disease.
PP56 improves energy homeostasis in a mouse model of pancreatic cancer.
Prevalent Homozygous Deletions of Type I Interferon and Defensin Genes in Human Cancers Associate with Immunotherapy Resistance.
The plant defensin NaD1 induces tumor cell death via a non-apoptotic, membranolytic process.
[Effects of human defensin HNP-1 on the production of tumor necrosis factor-alpha by human blood monocytes in vitro]
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.
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.
Skeletal Muscle Characteristics of Rats with Obesity, Diabetes, Hypertension, and Hyperlipidemia.
Onchocerciasis
Human autoantibody to defensin: disease association with hyperreactive onchocerciasis (sowda).
ornithine carbamoyltransferase deficiency
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[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.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Paramyxoviridae Infections
Enhanced surfactant protein and defensin mRNA levels and reduced viral replication during parainfluenza virus type 3 pneumonia in neonatal lambs.
peptidyl-glutamate 4-carboxylase deficiency
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
[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.
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal 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.
Periodontal Diseases
Reduced human beta defensin 3 in individuals with periodontal disease.
Phenylketonurias
Arguments for early screening: a clinician's perspective.
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
Comprehensive cost-utility analysis of newborn screening strategies.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Diagnosis of mitochondrial fatty acid oxidation defects.
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.
Economics of tandem mass spectrometry screening of neonatal inherited disorders.
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.
Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm.
Expanded newborn screening in Greece: 30 months of experience.
Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland.
Flux analysis of inborn errors of metabolism.
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
International perspectives on newborn screening.
Introduction to the newborn screening fact sheets.
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain.
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Newborn screening fact sheets.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Newborn screening.
Newborn screening: complexities in universal genetic testing.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
[Deficiency of the fatty-acid oxidising enzyme medium-chain acyl-CoA dehydrogenase (MCAD) in an adult, detected during a neonatal screening programme]
[Present status of expanded newborn screening project for inborn errors of metabolism by tandem mass spectrometry].
[Tandem mass spectrometry as screening for inborn errors of metabolism].
Pituitary Neoplasms
Posttranslational processing and targeting of transgenic human defensin in murine granulocyte, macrophage, fibroblast, and pituitary adenoma cell lines.
Plant Diseases
The proteins of plant defensin family and their application beyond plant disease control.
Pneumonia
Enhanced surfactant protein and defensin mRNA levels and reduced viral replication during parainfluenza virus type 3 pneumonia in neonatal lambs.
Polyomavirus Infections
The human alpha defensin HD5 neutralizes JC polyomavirus infection by reducing endoplasmic reticulum traffic and stabilizing the viral capsid.
Porphyrias
Ketogenic diet.
Pouchitis
Defensin expression in chronic pouchitis in patients with ulcerative colitis or familial adenomatous polyposis coli.
Innate immune environment in ileal pouch mucosa: ?5 defensin up-regulation as predictor of chronic/relapsing pouchitis.
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).
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism.
Biomarker Discovery, Disease Classification, and Similarity Query Processing on High-Throughput MS/MS Data of Inborn Errors of Metabolism.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry.
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.
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.
High-performance liquid chromatographic separation of acylcarnitines following derivatization with 4'-bromophenacyl trifluoromethanesulfonate.
Identification of urinary acylcarnitines using gas chromatography-mass spectrometry: preliminary clinical applications.
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography.
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.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Prostatic Neoplasms
Whole blood defensin mRNA expression is a predictive biomarker of docetaxel response in castration-resistant prostate cancer.
Protein Deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
pyruvate carboxylase deficiency
Ketogenic diet.
Pyruvate Carboxylase Deficiency Disease
Ketogenic diet.
Respiratory Distress Syndrome, Adult
[Defensin in plasma and in bronchoalveolar lavage fluid from patients with acute respiratory distress syndrome]
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.
Determination of medium chain fatty acids in serum.
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
Evidence that antioxidants prevent the inhibition of Na+,K(+)-ATPase activity induced by octanoic acid in rat cerebral cortex in vitro.
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency.
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.
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
Medium-chain acyl-CoA dehydrogenase deficiency in two siblings with a Reye-like syndrome.
Medium-chain acyl-CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome.
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: molecular aspects.
Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling.
Medium-chain and long-chain acyl CoA dehydrogenase deficiency: clinical, pathologic and ultrastructural differentiation from Reye's syndrome.
Metabolic cause of Reye-like syndrome.
Pantothenic acid in health and disease.
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards.
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes.
Relationship between unusual hepatic acyl coenzyme A profiles and the pathogenesis of Reye syndrome.
Reye syndrome and reye-like syndrome.
[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in 2 patients with symptoms of Reye syndrome]
[Reye syndrome and Reye-like syndrome].
Rhabdomyolysis
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Riboflavin Deficiency
Sudden death of chicken embryos with hereditary riboflavin deficiency.
Salmonella Infections
Protection against enteric salmonellosis in transgenic mice expressing a human intestinal defensin.
Seizures
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 and fatal valproate toxicity.
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.
Plasma defensin concentrations are elevated in patients with septicemia or bacterial meningitis.
Severe Combined Immunodeficiency
The Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.
Shock, Septic
Protective effects of antimicrobial peptides derived from the beetle Allomyrina dichotoma defensin on endotoxic shock in mice.
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
[An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency].
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
Staphylococcal Infections
[Effect of human beta defensin 2 on Staphylococcus aureus infection: in vivo study with transgenic mice]
Starvation
Pantothenic acid in health and disease.
sterol esterase deficiency
Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
Stomatitis, Aphthous
Increased beta 2 defensin in recurrent aphthous ulcer.
Superinfection
IL-33 Modulates the Expression of Human Beta Defensin 2 in Human Primary Keratinocytes and may influence the susceptibility to bacterial superinfection in acute atopic dermatitis.
Tachycardia
Neonatal Ventricular Tachyarrhythmias in 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).
Tachycardia, Ventricular
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Thrombocytopenia
Neonatal hypoglycemia 30 years later: does it injure the brain? Historical summary and present challenges.
Tonsillitis
Chronic tonsillitis is not associated with beta defensin 1 gene polymorphisms in Turkish population.
Tuberculosis
Hypoxia triggers the expression of human ? defensin 2 and antimicrobial activity against Mycobacterium tuberculosis in human macrophages.
Mycobacterium tuberculosis Cholesterol Catabolism Requires a New Class of Acyl Coenzyme A Dehydrogenase.
Shrinking the FadE Proteome of Mycobacterium tuberculosis: Insights into Cholesterol Metabolism through Identification of an ?2?2 Heterotetrameric Acyl Coenzyme A Dehydrogenase Family.
Tuberculosis, Pulmonary
Expression of Beta defensin 2 in experimental pulmonary tuberculosis: tentative approach for vaccine development.
Tyrosinemias
Introduction to the newborn screening fact sheets.
Newborn screening fact sheets.
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]
[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children.]
[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]
[Tandem mass spectrometry as screening for inborn errors of metabolism].
Urea Cycle Disorders, Inborn
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Urethritis
Distinct defensin profiles in Neisseria gonorrhoeae and Chlamydia trachomatis urethritis reveal novel epithelial cell-neutrophil interactions.
Uterine Cervical Neoplasms
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.
Uveitis
Immunohistochemical localization of T lymphocytes and macrophages and expression of interferon gamma and defensin in uveitis.
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.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Vitamin B 12 Deficiency
Pantothenic acid in health and disease.
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.
Increased urinary excretion of LTB4 and omega-carboxy-LTB4 in patients with Zellweger syndrome.