Disease on EC 1.3.8.8 - long-chain acyl-CoA dehydrogenase
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Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.
3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
3-hydroxyacyl-coa dehydrogenase deficiency
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.
Acidosis, Lactic
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
Acute Kidney Injury
Very-long-chain acyl-coenzyme A dehydrogenase deficiency--a new cause of myoglobinuric acute renal failure.
acyl-coa dehydrogenase deficiency
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.
acyl-coa dehydrogenase deficiency
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
acyl-coa dehydrogenase deficiency
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
acyl-coa dehydrogenase deficiency
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
acyl-coa dehydrogenase deficiency
Early Presentation of Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Nursing Action Resulting in a Positive Outcome.
acyl-coa dehydrogenase deficiency
Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil.
acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
acyl-coa dehydrogenase deficiency
Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics.
acyl-coa dehydrogenase deficiency
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
acyl-coa dehydrogenase deficiency
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
acyl-coa dehydrogenase deficiency
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
acyl-coa dehydrogenase deficiency
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
acyl-coa dehydrogenase deficiency
Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
acyl-coa dehydrogenase deficiency
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
acyl-coa dehydrogenase deficiency
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
acyl-coa dehydrogenase deficiency
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
acyl-coa dehydrogenase deficiency
Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
acyl-coa dehydrogenase deficiency
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
acyl-coa dehydrogenase deficiency
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].
acyl-coa dehydrogenase deficiency
[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency]
acyl-coa dehydrogenase deficiency
[Short chain and long chain acyl-CoA dehydrogenase deficiencies]
Adrenal Hyperplasia, Congenital
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Adrenoleukodystrophy
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Adrenoleukodystrophy
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.
Arrhythmias, Cardiac
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Arrhythmias, Cardiac
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
biotin-[propionyl-coa-carboxylase (atp-hydrolysing)] ligase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Biotinidase Deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Bradycardia
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
Bradycardia
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Brain Diseases
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Canavan Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Carcinoma, Hepatocellular
Hormonal and substrate regulation of 3-thia fatty acid metabolism in Morris 7800 C1 hepatoma cells.
Carcinoma, Hepatocellular
Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein.
Cardiomegaly
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.
Cardiomegaly
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Cardiomegaly
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency.
Cardiomegaly
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
Cardiomyopathies
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Cardiomyopathies
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
Cardiomyopathies
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Cardiomyopathies
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Cardiomyopathies
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Cardiomyopathies
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Cardiomyopathies
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
Cardiomyopathies
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Cardiomyopathies
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Cardiomyopathies
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Cardiomyopathies
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Cardiomyopathies
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
Cardiomyopathies
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
Cardiomyopathies
On-chip acidification rate measurements from single cardiac cells confined in sub-nanoliter volumes.
Cardiomyopathies
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Cardiomyopathies
Prolonged QT interval and lipid alterations beyond {beta}-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.
Cardiomyopathies
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice.
Cardiomyopathies
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Cardiomyopathies
Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.
Cardiomyopathies
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
Cardiomyopathies
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Cardiomyopathies
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Cardiomyopathies
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Cardiomyopathies
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Cardiomyopathy, Dilated
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Cardiomyopathy, Hypertrophic
Assembly defects of multiple respiratory chain complexes in a child with cardiac hypertrophy associated with a novel ACAD9 mutation.
Cardiomyopathy, Hypertrophic
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
Cardiomyopathy, Hypertrophic
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Cardiomyopathy, Hypertrophic
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
carnitine o-palmitoyltransferase deficiency
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
carnitine o-palmitoyltransferase deficiency
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
carnitine o-palmitoyltransferase deficiency
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
carnitine o-palmitoyltransferase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
carnitine o-palmitoyltransferase deficiency
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.
carnitine o-palmitoyltransferase deficiency
Rhabdomyolysis with different etiologies in childhood.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
carnitine o-palmitoyltransferase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
carnitine o-palmitoyltransferase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Cholestasis, Intrahepatic
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Chondrodysplasia Punctata, Rhizomelic
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.
Citrullinemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Citrullinemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Colonic Neoplasms
Dysregulated Free Fatty Acid Receptor 2 Exacerbates Colonic Adenoma Formation in Apc Min/+ Mice: Relation to Metabolism and Gut Microbiota Composition.
Congenital Hypothyroidism
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Cystic Fibrosis
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Cytochrome-c Oxidase Deficiency
Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders.
Death, Sudden, Cardiac
Prolonged QT interval and lipid alterations beyond {beta}-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.
Fatty Liver
Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.
Fatty Liver
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
Fatty Liver
Obesity and aging diminish SIRT1-mediated deacetylation of SIRT3, leading to hyperacetylation and decreased activity and stability of SIRT3.
Fatty Liver
Selenium significantly inhibits adipocyte hypertrophy and abdominal fat accumulation in OLETF rats via induction of fatty acid ?-oxidation.
Genetic Diseases, Inborn
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
Genetic Diseases, Inborn
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Glucose Intolerance
Obesity and aging diminish SIRT1-mediated deacetylation of SIRT3, leading to hyperacetylation and decreased activity and stability of SIRT3.
Glycogen Storage Disease
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Heart Arrest
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
Heart Arrest
Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.
Heart Diseases
Monounsaturated 14:1n-9 and 16:1n-9 fatty acids but not 18:1n-9 induce apoptosis and necrosis in murine HL-1 cardiomyocytes.
Heart Diseases
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
Heart Failure
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
Heart Failure
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Heart Failure
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
HELLP Syndrome
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Hepatic Encephalopathy
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Hepatomegaly
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
Hepatomegaly
Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice.
Hepatomegaly
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Hepatomegaly
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Hepatomegaly
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Hepatomegaly
Sex-related difference in the inductions by perfluoro-octanoic acid of peroxisomal beta-oxidation, microsomal 1-acylglycerophosphocholine acyltransferase and cytosolic long-chain acyl-CoA hydrolase in rat liver.
Hepatomegaly
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
Holocarboxylase Synthetase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Homocystinuria
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Hyperargininemia
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Hyperargininemia
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Hypoalbuminemia
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
Hypoglycemia
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
Hypoglycemia
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.
Hypoglycemia
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
Hypoglycemia
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Hypoglycemia
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Hypoglycemia
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Hypoglycemia
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Hypoglycemia
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Hypoglycemia
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Hypoglycemia
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Hypoglycemia
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Hypoglycemia
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Hypoglycemia
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Hypoglycemia
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
Infections
Increased mortality from influenza infection in long-chain acyl-CoA dehydrogenase knockout mice.
Influenza, Human
Increased mortality from influenza infection in long-chain acyl-CoA dehydrogenase knockout mice.
Insulin Resistance
Angiotensin-converting enzyme inhibition reverses diet-induced obesity, insulin resistance and inflammation in C57BL/6J mice.
Insulin Resistance
Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance.
Insulin Resistance
Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency.
isovaleryl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Ketosis
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Lethargy
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Leukodystrophy, Metachromatic
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Liver Diseases
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Liver Diseases
Disturbance of mitochondrial functions associated with permeability transition pore opening induced by cis-5-tetradecenoic and myristic acids in liver of adolescent rats.
Liver Diseases
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Liver Failure
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Liver Failure
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
Liver Failure
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice.
long-chain acyl-coa dehydrogenase deficiency
A case of impairment of mitochondrial fatty acid beta-oxidation.
long-chain acyl-coa dehydrogenase deficiency
A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.
long-chain acyl-coa dehydrogenase deficiency
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
long-chain acyl-coa dehydrogenase deficiency
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
long-chain acyl-coa dehydrogenase deficiency
A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.
long-chain acyl-coa dehydrogenase deficiency
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
long-chain acyl-coa dehydrogenase deficiency
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
long-chain acyl-coa dehydrogenase deficiency
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns.
long-chain acyl-coa dehydrogenase deficiency
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
long-chain acyl-coa dehydrogenase deficiency
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
long-chain acyl-coa dehydrogenase deficiency
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
long-chain acyl-coa dehydrogenase deficiency
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
long-chain acyl-coa dehydrogenase deficiency
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.
long-chain acyl-coa dehydrogenase deficiency
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
long-chain acyl-coa dehydrogenase deficiency
An adult case with very long-chain acyl-coenzyme A dehydrogenase deficiency presenting with recurrent episodes of exercise induced myalgia.
long-chain acyl-coa dehydrogenase deficiency
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review.
long-chain acyl-coa dehydrogenase deficiency
Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
long-chain acyl-coa dehydrogenase deficiency
Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.
long-chain acyl-coa dehydrogenase deficiency
Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.
long-chain acyl-coa dehydrogenase deficiency
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
long-chain acyl-coa dehydrogenase deficiency
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
long-chain acyl-coa dehydrogenase deficiency
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
long-chain acyl-coa dehydrogenase deficiency
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
long-chain acyl-coa dehydrogenase deficiency
Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
long-chain acyl-coa dehydrogenase deficiency
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
long-chain acyl-coa dehydrogenase deficiency
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.
long-chain acyl-coa dehydrogenase deficiency
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.
long-chain acyl-coa dehydrogenase deficiency
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
long-chain acyl-coa dehydrogenase deficiency
Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis.
long-chain acyl-coa dehydrogenase deficiency
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.
long-chain acyl-coa dehydrogenase deficiency
Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
long-chain acyl-coa dehydrogenase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
long-chain acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
long-chain acyl-coa dehydrogenase deficiency
Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.
long-chain acyl-coa dehydrogenase deficiency
Concurrent infantile pneumomediastinum and pneumoperitoneum.
long-chain acyl-coa dehydrogenase deficiency
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
long-chain acyl-coa dehydrogenase deficiency
Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
long-chain acyl-coa dehydrogenase deficiency
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
long-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
long-chain acyl-coa dehydrogenase deficiency
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
long-chain acyl-coa dehydrogenase deficiency
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
long-chain acyl-coa dehydrogenase deficiency
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
long-chain acyl-coa dehydrogenase deficiency
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
long-chain acyl-coa dehydrogenase deficiency
Early Presentation of Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Nursing Action Resulting in a Positive Outcome.
long-chain acyl-coa dehydrogenase deficiency
Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil.
long-chain acyl-coa dehydrogenase deficiency
Effects of a fat load and exercise on asymptomatic VLCAD deficiency.
long-chain acyl-coa dehydrogenase deficiency
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency.
long-chain acyl-coa dehydrogenase deficiency
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
long-chain acyl-coa dehydrogenase deficiency
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
long-chain acyl-coa dehydrogenase deficiency
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
long-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain acyl-coa dehydrogenase deficiency
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
long-chain acyl-coa dehydrogenase deficiency
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice.
long-chain acyl-coa dehydrogenase deficiency
Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics.
long-chain acyl-coa dehydrogenase deficiency
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
long-chain acyl-coa dehydrogenase deficiency
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.
long-chain acyl-coa dehydrogenase deficiency
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight.
long-chain acyl-coa dehydrogenase deficiency
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
long-chain acyl-coa dehydrogenase deficiency
Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.
long-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
long-chain acyl-coa dehydrogenase deficiency
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
long-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
long-chain acyl-coa dehydrogenase deficiency
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
long-chain acyl-coa dehydrogenase deficiency
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
long-chain acyl-coa dehydrogenase deficiency
Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
long-chain acyl-coa dehydrogenase deficiency
Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.
long-chain acyl-coa dehydrogenase deficiency
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
long-chain acyl-coa dehydrogenase deficiency
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
long-chain acyl-coa dehydrogenase deficiency
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
long-chain acyl-coa dehydrogenase deficiency
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
long-chain acyl-coa dehydrogenase deficiency
Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy.
long-chain acyl-coa dehydrogenase deficiency
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
long-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
long-chain acyl-coa dehydrogenase deficiency
Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.
long-chain acyl-coa dehydrogenase deficiency
Isolation of acylcarnitines from urine: a comparison of methods and application to long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening.
long-chain acyl-coa dehydrogenase deficiency
Long-chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Pulmonary Surfactant Dysfunction.
long-chain acyl-coa dehydrogenase deficiency
Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients.
long-chain acyl-coa dehydrogenase deficiency
Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy.
long-chain acyl-coa dehydrogenase deficiency
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
long-chain acyl-coa dehydrogenase deficiency
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain acyl-coa dehydrogenase deficiency
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Metabolic encephalopathy in Egyptian children.
long-chain acyl-coa dehydrogenase deficiency
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
long-chain acyl-coa dehydrogenase deficiency
Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca
long-chain acyl-coa dehydrogenase deficiency
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
long-chain acyl-coa dehydrogenase deficiency
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
long-chain acyl-coa dehydrogenase deficiency
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
long-chain acyl-coa dehydrogenase deficiency
Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance.
long-chain acyl-coa dehydrogenase deficiency
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
long-chain acyl-coa dehydrogenase deficiency
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.
long-chain acyl-coa dehydrogenase deficiency
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
long-chain acyl-coa dehydrogenase deficiency
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
long-chain acyl-coa dehydrogenase deficiency
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
long-chain acyl-coa dehydrogenase deficiency
Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.
long-chain acyl-coa dehydrogenase deficiency
Molecular Diagnosis for a Fatal Case of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Hong Kong Chinese With a Novel Mutation: A Preventable Death by Newborn Screening.
long-chain acyl-coa dehydrogenase deficiency
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
long-chain acyl-coa dehydrogenase deficiency
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
long-chain acyl-coa dehydrogenase deficiency
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
long-chain acyl-coa dehydrogenase deficiency
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
long-chain acyl-coa dehydrogenase deficiency
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
long-chain acyl-coa dehydrogenase deficiency
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
long-chain acyl-coa dehydrogenase deficiency
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
long-chain acyl-coa dehydrogenase deficiency
Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
long-chain acyl-coa dehydrogenase deficiency
No effect of bezafibrate in patients with CPTII and VLCAD deficiencies.
long-chain acyl-coa dehydrogenase deficiency
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
On-chip acidification rate measurements from single cardiac cells confined in sub-nanoliter volumes.
long-chain acyl-coa dehydrogenase deficiency
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
long-chain acyl-coa dehydrogenase deficiency
Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil.
long-chain acyl-coa dehydrogenase deficiency
Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
long-chain acyl-coa dehydrogenase deficiency
Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?
long-chain acyl-coa dehydrogenase deficiency
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
long-chain acyl-coa dehydrogenase deficiency
Prenatal diagnosis of mitochondrial fatty acid oxidation defects.
long-chain acyl-coa dehydrogenase deficiency
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells.
long-chain acyl-coa dehydrogenase deficiency
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
long-chain acyl-coa dehydrogenase deficiency
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
long-chain acyl-coa dehydrogenase deficiency
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice.
long-chain acyl-coa dehydrogenase deficiency
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
long-chain acyl-coa dehydrogenase deficiency
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
long-chain acyl-coa dehydrogenase deficiency
Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase.
long-chain acyl-coa dehydrogenase deficiency
Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
long-chain acyl-coa dehydrogenase deficiency
Rhabdomyolysis with different etiologies in childhood.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
long-chain acyl-coa dehydrogenase deficiency
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.
long-chain acyl-coa dehydrogenase deficiency
Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Structural Basis for Substrate Fatty Acyl Chain Specificity: CRYSTAL STRUCTURE OF HUMAN VERY-LONG-CHAIN ACYL-CoA DEHYDROGENASE.
long-chain acyl-coa dehydrogenase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
long-chain acyl-coa dehydrogenase deficiency
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.
long-chain acyl-coa dehydrogenase deficiency
Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect.
long-chain acyl-coa dehydrogenase deficiency
Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
long-chain acyl-coa dehydrogenase deficiency
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
long-chain acyl-coa dehydrogenase deficiency
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
long-chain acyl-coa dehydrogenase deficiency
The long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
long-chain acyl-coa dehydrogenase deficiency
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
long-chain acyl-coa dehydrogenase deficiency
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.
long-chain acyl-coa dehydrogenase deficiency
Tissue acylcarnitine status in a mouse model of mitochondrial ?-oxidation deficiency during metabolic decompensation due to influenza virus infection.
long-chain acyl-coa dehydrogenase deficiency
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
long-chain acyl-coa dehydrogenase deficiency
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
long-chain acyl-coa dehydrogenase deficiency
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
long-chain acyl-coa dehydrogenase deficiency
Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
long-chain acyl-coa dehydrogenase deficiency
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
long-chain acyl-coa dehydrogenase deficiency
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
long-chain acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
long-chain acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
long-chain acyl-coa dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
long-chain acyl-coa dehydrogenase deficiency
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
long-chain acyl-coa dehydrogenase deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening.
long-chain acyl-coa dehydrogenase deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.
long-chain acyl-coa dehydrogenase deficiency
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis.
long-chain acyl-coa dehydrogenase deficiency
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane.
long-chain acyl-coa dehydrogenase deficiency
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
long-chain acyl-coa dehydrogenase deficiency
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.
long-chain acyl-coa dehydrogenase deficiency
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
long-chain acyl-coa dehydrogenase deficiency
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
long-chain acyl-coa dehydrogenase deficiency
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
long-chain acyl-coa dehydrogenase deficiency
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
long-chain acyl-coa dehydrogenase deficiency
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.
long-chain acyl-coa dehydrogenase deficiency
[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis]
long-chain acyl-coa dehydrogenase deficiency
[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle]
long-chain acyl-coa dehydrogenase deficiency
[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency]
long-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
long-chain acyl-coa dehydrogenase deficiency
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
long-chain acyl-coa dehydrogenase deficiency
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].
long-chain acyl-coa dehydrogenase deficiency
[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency]
long-chain acyl-coa dehydrogenase deficiency
[Novel nutritional management regimen for very long-chain acyl-CoA dehydrogenase deficiency]
long-chain acyl-coa dehydrogenase deficiency
[Short chain and long chain acyl-CoA dehydrogenase deficiencies]
long-chain acyl-coa dehydrogenase deficiency
[Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult]
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Maple Syrup Urine Disease
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Maple Syrup Urine Disease
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Maple Syrup Urine Disease
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
medium-chain acyl-coa dehydrogenase deficiency
Complementation analysis of fatty acid oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
medium-chain acyl-coa dehydrogenase deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
medium-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
medium-chain acyl-coa dehydrogenase deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
medium-chain acyl-coa dehydrogenase deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
medium-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
medium-chain acyl-coa dehydrogenase deficiency
Metabolic encephalopathy in Egyptian children.
medium-chain acyl-coa dehydrogenase deficiency
Postmortem screening for fatty acid oxidation disorders by analysis of Guthrie cards with tandem mass spectrometry in sudden unexpected death in infancy.
medium-chain acyl-coa dehydrogenase deficiency
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
medium-chain acyl-coa dehydrogenase deficiency
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
medium-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Metabolic Diseases
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Metabolic Diseases
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Metabolic Diseases
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
Metabolism, Inborn Errors
Molecular Diagnosis for a Fatal Case of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Hong Kong Chinese With a Novel Mutation: A Preventable Death by Newborn Screening.
Metabolism, Inborn Errors
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Mevalonate Kinase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Mitochondrial Diseases
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Fatty Acid oxidation disorders in a chinese population in taiwan.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency]
Multiple Carboxylase Deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Muscle Hypotonia
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Muscle Hypotonia
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
Muscle Hypotonia
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Muscle Weakness
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.
Muscle Weakness
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Muscle Weakness
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
Muscle Weakness
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Muscle Weakness
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
Muscular Diseases
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Muscular Diseases
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.
Muscular Diseases
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Muscular Diseases
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Muscular Diseases
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
Muscular Diseases
Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy.
Muscular Diseases
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Myalgia
An adult case with very long-chain acyl-coenzyme A dehydrogenase deficiency presenting with recurrent episodes of exercise induced myalgia.
Myalgia
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Myalgia
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Myocardial Ischemia
Inhibition of very long chain acyl-CoA dehydrogenase during cardiac ischemia.
Myoglobinuria
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Myoglobinuria
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Myoglobinuria
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.
Myoglobinuria
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Myoglobinuria
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
nadh:ubiquinone reductase (h+-translocating) deficiency
Another "Complex" Case: Complex I Deficiency Secondary to Acyl-CoA Dehydrogenase 9 Mutation.
nadh:ubiquinone reductase (h+-translocating) deficiency
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
nadh:ubiquinone reductase (h+-translocating) deficiency
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ(10)).
Neoplasms
ACADL plays a tumor-suppressor role by targeting Hippo/YAP signaling in hepatocellular carcinoma.
Neoplasms
Identification of developmental competence-related genes in mature porcine oocytes.
Neoplasms
Mechanistic Insights into Side Effects of Troglitazone and Rosiglitazone Using a Novel Inverse Molecular Docking Protocol.
Obesity
Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency.
Oliguria
Critical illness in energy metabolism genetic disorder: rhabdomyolysis, acute kidney injury, respiratory arrest.
ornithine carbamoyltransferase deficiency
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
ornithine carbamoyltransferase deficiency
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Ornithine Carbamoyltransferase Deficiency Disease
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea.
Ovarian Cysts
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency.
peptidyl-glutamate 4-carboxylase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Pericardial Effusion
Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infection.
Pericardial Effusion
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Perinatal Death
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Phenylketonurias
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Propionic Acidemia
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Propionic Acidemia
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Propionic Acidemia
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Protein Deficiency
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Protein Deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Refsum Disease
Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.
Respiratory Insufficiency
AAV9 gene replacement therapy for respiratory insufficiency in very-long chain acyl-CoA dehydrogenase deficiency.
Respiratory Insufficiency
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Respiratory Syncytial Virus Infections
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
Rhabdomyolysis
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
Rhabdomyolysis
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Rhabdomyolysis
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
Rhabdomyolysis
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Rhabdomyolysis
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Rhabdomyolysis
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Rhabdomyolysis
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Rhabdomyolysis
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Rhabdomyolysis
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Rhabdomyolysis
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
Impairment of mitochondrial bioenergetics and permeability transition induction caused by major long-chain fatty acids accumulating in VLCAD deficiency in skeletal muscle as potential pathomechanisms of myopathy.
Rhabdomyolysis
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Rhabdomyolysis
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
Rhabdomyolysis
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.
Rhabdomyolysis
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
Rhabdomyolysis
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Rhabdomyolysis
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
Rhabdomyolysis
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
Rhabdomyolysis
[Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult]
Riboflavin Deficiency
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Severe Combined Immunodeficiency
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
short-chain acyl-coa dehydrogenase deficiency
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
short-chain acyl-coa dehydrogenase deficiency
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
Starvation
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency.
Tyrosinemias
Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.
Urea Cycle Disorders, Inborn
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Vaccinia
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
Vaccinia
Rat very-long-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid beta-oxidation system. cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein.
Ventricular Fibrillation
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
very-long-chain acyl-coa dehydrogenase deficiency
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Virus Diseases
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
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