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Disease on EC 1.3.8.8 - long-chain acyl-CoA dehydrogenase

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DISEASE
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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.
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.
A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.
A severe genotype with favourable outcome in very 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.
Clinical features and mutations in seven Chinese patients with very 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.
Complementation analysis of fatty acid oxidation disorders.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Early Presentation of Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Nursing Action Resulting in a Positive Outcome.
Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Fatty liver in a two days old neonate.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
Identification of two novel mutations in the hypoglycemic phenotype of very 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-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Metabolic encephalopathy in Egyptian children.
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.
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
Perioperative measures in very long chain acyl-CoA dehydrogenase deficiency.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Proposal for an individualized dietary strategy in patients with very 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.
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
The effect of dantrolene sodium in Very 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.
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
Two Novel Missense Mutations in Very 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.
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].
[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 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.
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.
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.
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.
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.
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very 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.
Cardiomyopathies
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency.
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Long-chain fatty acid oxidation during early human development.
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
On-chip acidification rate measurements from single cardiac cells confined in sub-nanoliter volumes.
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Prolonged QT interval and lipid alterations beyond {beta}-oxidation in very long-chain acyl-CoA dehydrogenase null mouse hearts.
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice.
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.
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.
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
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.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.
Rhabdomyolysis with different etiologies in childhood.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
[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.
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.
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.
Inborn errors of metabolism and pregnancy.
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
Obesity and aging diminish SIRT1-mediated deacetylation of SIRT3, leading to hyperacetylation and decreased activity and stability of SIRT3.
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.
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
Metabolic myopathies.
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.
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.
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.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
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.
Inborn errors of metabolism and pregnancy.
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.
Fasting-induced oxidative stress in very long chain acyl-CoA dehydrogenase-deficient mice.
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
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.
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.
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.
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.
A simple spectrophotometric assay for long-chain acyl-CoA dehydrogenase activity measurements in human skin fibroblasts.
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Cloning and functional characterization of ACAD-9, a novel member of human acyl-CoA dehydrogenase family.
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of 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.
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Long-chain fatty acid oxidation during early human development.
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
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.
Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic 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.
Leukemia
Very long chain fatty acid metabolism is required in acute myeloid leukemia.
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.
Disturbance of mitochondrial functions associated with permeability transition pore opening induced by cis-5-tetradecenoic and myristic acids in liver of adolescent rats.
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.
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
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.
A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.
A Delphi clinical practice protocol for the management of very 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.
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
A near-miss: very long chain acyl-CoA dehydrogenase deficiency with normal primary markers in the initial well-timed newborn screening specimen.
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
A newborn with VLCAD deficiency Clinical, biochemical, and histopathological findings.
A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase.
A Novel Missense Mutation in Very 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.
A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency.
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies.
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
Acyl-CoA dehydrogenase 9 (ACAD 9) is the long-chain acyl-CoA dehydrogenase in human embryonic and fetal brain.
Adolescent myopathic presentation in two sisters with very 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.
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
An adult case with very long-chain acyl-coenzyme A dehydrogenase deficiency presenting with recurrent episodes of exercise induced myalgia.
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency.
Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review.
Anesthetic management for a patient with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
Beta-oxidation of long-chain fatty acids by human fibroblasts: evidence for a novel long-chain acyl-coenzyme A dehydrogenase.
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD 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.
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.
Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency.
Cardiac-specific VLCAD deficiency induces dilated cardiomyopathy and cold intolerance.
Carnitine palmitoyltransferase 2: New insights on the substrate specificity and implications for acylcarnitine profiling.
Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very 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.
Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients.
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.
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Commentary on a Delphi clinical practice protocol for the diagnosis and management of very long chain acyl-CoA dehydrogenase deficiency by Arnold et al.
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Complementation analysis of fatty acid oxidation disorders.
Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.
Concurrent infantile pneumomediastinum and pneumoperitoneum.
Creatine kinase and uric acid: early warning for metabolic imbalance resulting from disorders of fatty acid oxidation.
Defect in fatty acid oxidation: laboratory and pathologic findings in a patient.
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Development and pathomechanisms of cardiomyopathy in very long-chain acyl-CoA dehydrogenase deficient (VLCAD(-/-)) mice.
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.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Early Presentation of Very Long Chain Acyl-CoA Dehydrogenase Deficiency: Nursing Action Resulting in a Positive Outcome.
Early recovery from anesthesia and extubation in an infant with very long chain acyl-CoA dehydrogenase deficiency using midazolam, mivacurium, and high dose remifentanil.
Effects of a fat load and exercise on asymptomatic VLCAD deficiency.
Effects of IV glucose and oral medium-chain triglyceride in patients with VLCAD deficiency.
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice.
Exploring urine biomarkers of early health effects for occupational exposure to titanium dioxide nanoparticles using metabolomics.
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.
False positive cases of elevated tetradecenoyl carnitine in newborn mass screening showed significant loss of body weight.
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice.
Fatty Acid oxidation disorders in a chinese population in taiwan.
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
Fatty liver in a two days old neonate.
Follow-up of fatty acid ?-oxidation disorders in expanded newborn screening era.
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Fuel utilization in patients with very long-chain acyl-coa dehydrogenase deficiency.
Gene symbol: ACADVL. Disease: Very 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.
Genomic DNA organization of human mitochondrial very-long-chain acyl-CoA dehydrogenase and mutation analysis.
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of 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.
Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders.
Identification of two novel mutations in the hypoglycemic phenotype of 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.
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
Impaired Fat Oxidation During Exercise in Long-Chain Acyl-CoA Dehydrogenase Deficiency Patients and Effect of IV-Glucose.
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.
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Inborn errors of metabolism and pregnancy.
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.
Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.
Isolation of acylcarnitines from urine: a comparison of methods and application to 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 as a Cause of Pulmonary Surfactant Dysfunction.
Long-chain acyl-coenzyme A dehydrogenase deficiency: biochemical studies in fibroblasts from three patients.
Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy.
Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
Metabolic encephalopathy in Egyptian children.
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
Metabolite accumulation in VLCAD deficiency markedly disrupts mitochondrial bioenergetics and Ca
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Milder childhood form of very long-chain acyl-CoA dehydrogenase deficiency in a 6-year-old Japanese boy.
Misclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
Mitochondrial dysfunction due to long-chain Acyl-CoA dehydrogenase deficiency causes hepatic steatosis and hepatic insulin resistance.
Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers.
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course.
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients.
Molecular and cellular pathology of very-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.
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
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.
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.
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.
Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Next generation sequencing as a follow-up test in an expanded newborn screening programme.
Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
No effect of bezafibrate in patients with CPTII and VLCAD deficiencies.
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency.
On-chip acidification rate measurements from single cardiac cells confined in sub-nanoliter volumes.
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Perioperative management of a child with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Perioperative measures in very 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.
Positive Newborn Screen in a Normal Infant of a Mother with Asymptomatic Very 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.
Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Prenatal diagnosis of mitochondrial fatty acid oxidation defects.
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells.
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography.
Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient mice.
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase.
Resistance to high-fat diet-induced obesity and insulin resistance in mice with very long-chain acyl-CoA dehydrogenase deficiency.
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
Rhabdomyolysis with different etiologies in childhood.
Round Table Discussion.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
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.
Sex-specific perturbation of complex lipids in response to medium-chain fatty acids in very long-chain acyl-CoA dehydrogenase deficiency.
State of the art in muscle lipid diseases.
Strategies for correcting very long chain acyl-CoA dehydrogenase deficiency.
Structural Basis for Substrate Fatty Acyl Chain Specificity: CRYSTAL STRUCTURE OF HUMAN VERY-LONG-CHAIN ACYL-CoA DEHYDROGENASE.
Subclinical effects of long-chain fatty acid ?-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review.
Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect.
Sudden death in a Korean infant with very 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.
The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD).
The effect of dantrolene sodium in Very 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.
The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.
The long-chain acyl-CoA dehydrogenase deficiency.
The mutational spectrum in very 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.
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-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.
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Two Novel Missense Mutations in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts.
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
Very long-chain acyl-CoA dehydrogenase deficiency in an infant presenting with massive hepatomegaly.
Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity.
Very long-chain acyl-CoA dehydrogenase deficiency presenting as acute hypercapnic respiratory failure.
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
Very long-chain acyl-CoA dehydrogenase deficiency: No developmental delay after cardiopulmonary arrest.
Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening.
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: Eight case reports, including one case of prenatal diagnosis.
Very-long-chain acyl-CoA dehydrogenase subunit assembles to the dimer form on mitochondrial inner membrane.
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria.
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.
VLCAD deficiency in a patient who recovered from ventricular fibrillation, but died suddenly of a respiratory syncytial virus infection.
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.
Volatile anesthesia for a pediatric patient with very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report.
[A case of skeletal muscle type very-long-chain-acyl CoA dehydrogenase(VLCAD) deficiency with repeated rhabdomyolysis]
[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle]
[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency]
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
[Genetic analysis of a child with very long chain acyl-CoA dehydrogenase deficiency].
[Non-ketotic hypoglycemia caused by carnitine palmitoyl transferase 1 deficiency]
[Novel nutritional management regimen for very long-chain acyl-CoA dehydrogenase deficiency]
[Short chain and long chain acyl-CoA dehydrogenase deficiencies]
[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.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Round Table Discussion.
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.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Mediastinal Emphysema
Concurrent infantile pneumomediastinum and pneumoperitoneum.
medium-chain acyl-coa dehydrogenase deficiency
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of ?-oxidation.
Complementation analysis of fatty acid oxidation disorders.
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
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.
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.
Recurrent myoglobinuria as a presenting manifestation of very long 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.
Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.
[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.
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
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.
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.
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.
[Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders]
[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.
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.
Hypoglycemia, hypotonia, and cardiomyopathy: the evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency.
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.
Activation of PPAR? by Fatty Acid Accumulation Enhances Fatty Acid Degradation and Sulfatide Synthesis.
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency.
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Myopathies caused by disorders of lipid metabolism.
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.
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress.
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models.
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
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.
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Muscular Dystrophies
Rhabdomyolysis with different etiologies in childhood.
Myalgia
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
An adult case with very long-chain acyl-coenzyme A dehydrogenase deficiency presenting with recurrent episodes of exercise induced myalgia.
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
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
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Metabolic myopathies.
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency.
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
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.
Successful treatment of infantile-onset ACAD9-related cardiomyopathy with a combination of sodium pyruvate, beta-blocker, and coenzyme Q10.
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.
Identification of developmental competence-related genes in mature porcine oocytes.
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.
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
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.
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
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 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.
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.
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.
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Pneumoperitoneum
Concurrent infantile pneumomediastinum and pneumoperitoneum.
Propionic Acidemia
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China.
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders.
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.
Protein Deficiency
A diagnostic algorithm for metabolic myopathies.
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Round Table Discussion.
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.
Concurrent infantile pneumomediastinum and pneumoperitoneum.
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.
Reye Syndrome
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Rhabdomyolysis
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy.
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
Efficacy of bezafibrate for preventing myopathic attacks in patients with very 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.
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase.
Long-chain fatty acid oxidation during early human development.
Metabolic Outcomes of Anaplerotic Dodecanedioic Acid Supplementation in Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficient Fibroblasts.
Rhabdomyolysis as a presenting manifestation of very long-chain acyl-coenzyme a dehydrogenase deficiency.
Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting.
Rhabdomyolysis with different etiologies in childhood.
The effect of dantrolene sodium in Very Long Chain Acyl-CoA Dehydrogenase Deficiency.
Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after l-carnitine supplementation.
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: CASE REPORT OF HYPOGLYCAEMIA AND RHABDOMYOLYSIS IN A 2-DAY-OLD INFANT.
[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.
Sepsis
Rhabdomyolysis with different etiologies in childhood.
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.
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]
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.
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.
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.