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acid phosphatase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Acidosis, Lactic
Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.
acyl-coa dehydrogenase deficiency
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Gene symbol: ACADVL. Disease: Very long chain acyl-CoA dehydrogenase deficiency.
acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
acyl-coa dehydrogenase deficiency
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Arrhythmias, Cardiac
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Biotinidase Deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Carcinogenesis
Differential gene expression identified in Uigur women cervical squamous cell carcinoma by suppression subtractive hybridization.
Carcinoma, Hepatocellular
Hormonal and substrate regulation of 3-thia fatty acid metabolism in Morris 7800 C1 hepatoma cells.
Cardiomyopathies
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
Cardiomyopathies
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Cardiomyopathies
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Cardiomyopathies
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Cardiomyopathies
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
Cardiomyopathies
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
Cardiomyopathies
Polymorphic ventricular tachycardia and abnormal Ca2+ handling in very-long-chain acyl-CoA dehydrogenase null mice.
Cardiomyopathies
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Cardiomyopathies
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
Cardiomyopathy, Dilated
Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
Cardiomyopathy, Hypertrophic
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Cardiomyopathy, Hypertrophic
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Contracture
Combined HIIT and Resistance Training in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: A Case Report.
Cryptorchidism
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.
Death, Sudden, Cardiac
Polymorphic ventricular tachycardia and abnormal Ca2+ handling in very-long-chain acyl-CoA dehydrogenase null mice.
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
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
Genetic Diseases, Inborn
Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.
Glycogen Storage Disease
Metabolic myopathies.
Hepatic Encephalopathy
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Homocystinuria
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
hydroxymethylglutaryl-coa lyase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Hypoglycemia
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
Hypoglycemia
Abnormal mitochondrial bioenergetics and heart rate dysfunction in mice lacking very-long-chain acyl-CoA dehydrogenase.
Hypoglycemia
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.
Hypoglycemia
Proteomic and Molecular Assessment of the Common Saudi Variant in ACADVL Gene Through Mesenchymal Stem Cells.
Hypoglycemia
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
Hypoglycemia
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Hypoglycemia
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Infections
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening.
Lethargy
Very long-chain acyl-CoA dehydrogenase deficiency: The effects of accidental fat loading in a patient detected through newborn screening.
Lipidoses
Anesthetic agents in patients with very long-chain acyl-coenzyme A dehydrogenase deficiency: a literature review.
Lipidoses
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Liver Diseases
A Family With a Complex Phenotype Caused by Two Different Rare Metabolic Disorders: GLUT1 and Very-Long-Chain Fatty Acid Dehydrogenase (VLCAD) Deficiencies.
Liver Diseases
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
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
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
Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.
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
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
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
Gene symbol: ACADVL. Disease: 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
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
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
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
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
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Maple Syrup Urine Disease
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
medium-chain acyl-coa dehydrogenase deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
medium-chain acyl-coa dehydrogenase deficiency
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
medium-chain acyl-coa dehydrogenase deficiency
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
medium-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Metabolic Diseases
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
methylcrotonoyl-coa carboxylase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
Muscle Weakness
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
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
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Muscular Diseases
Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
Muscular Diseases
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.
Myoglobinuria
A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.
Myoglobinuria
Metabolic myopathies.
Neoplasms
Loss of heterozygosity of 17p13, with possible involvement of ACADVL and ALOX15B, in the pathogenesis of adrenocortical tumors.
Pericardial Effusion
Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.
Pericardial Effusion
Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy.
Protein Deficiency
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Protein Deficiency
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
Protein Deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
Protein Deficiency
Management of fatty acid oxidation disorders: a survey of current treatment strategies.
Rhabdomyolysis
A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.
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
Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges.
Rhabdomyolysis
Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.
Rhabdomyolysis
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
Rhabdomyolysis
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.
Rhabdomyolysis
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
Rhabdomyolysis
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.
Rhabdomyolysis
[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle]
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.
Tachycardia, Ventricular
Polymorphic ventricular tachycardia and abnormal Ca2+ handling in very-long-chain acyl-CoA dehydrogenase null mice.
very-long-chain acyl-coa dehydrogenase deficiency
A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
very-long-chain acyl-coa dehydrogenase deficiency
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
very-long-chain acyl-coa dehydrogenase deficiency
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
very-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.
very-long-chain acyl-coa dehydrogenase deficiency
DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Electrospray tandem mass spectrometry for analysis of acylcarnitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death.
very-long-chain acyl-coa dehydrogenase deficiency
Expanded newborn screening in New South Wales: missed cases.
very-long-chain acyl-coa dehydrogenase deficiency
Fatty Acid oxidation disorder with secondary mitochondrial energy production defect: a case report.
very-long-chain acyl-coa dehydrogenase deficiency
Fatty acid oxidation disorders: outcome and long-term prognosis.
very-long-chain acyl-coa dehydrogenase deficiency
Genetic characteristics and follow-up of patients with fatty acid ?-oxidation disorders through expanded newborn screening in a Northern Chinese population.
very-long-chain acyl-coa dehydrogenase deficiency
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Heat stress deteriorates mitochondrial beta-oxidation of long-chain fatty acids in cultured fibroblasts with fatty acid beta-oxidation disorders.
very-long-chain acyl-coa dehydrogenase deficiency
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
very-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.
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
Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes.
very-long-chain acyl-coa dehydrogenase deficiency
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-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.
very-long-chain acyl-coa dehydrogenase deficiency
Medium-chain triglycerides impair lipid metabolism and induce hepatic steatosis in very long-chain acyl-CoA dehydrogenase (VLCAD)-deficient mice.
very-long-chain acyl-coa dehydrogenase deficiency
Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.
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.
very-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.
very-long-chain acyl-coa dehydrogenase deficiency
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
very-long-chain acyl-coa dehydrogenase deficiency
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
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.
very-long-chain acyl-coa dehydrogenase deficiency
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
very-long-chain acyl-coa dehydrogenase deficiency
Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Novel mutation of early, perinatal-onset, myopathic-type very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Oxidation of unsaturated fatty acids by human fibroblasts with very-long-chain acyl-CoA dehydrogenase deficiency: aspects of substrate specificity and correlation with clinical phenotype.
very-long-chain acyl-coa dehydrogenase deficiency
Pervasive inflammatory activation in patients with deficiency in very-long-chain acyl-coA dehydrogenase (VLCADD).
very-long-chain acyl-coa dehydrogenase deficiency
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry.
very-long-chain acyl-coa dehydrogenase deficiency
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
very-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.
very-long-chain acyl-coa dehydrogenase deficiency
Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders.
very-long-chain acyl-coa dehydrogenase deficiency
The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.
very-long-chain acyl-coa dehydrogenase deficiency
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.
very-long-chain acyl-coa dehydrogenase deficiency
Very-Long-Chain Acyl-Co-Enzyme A Dehydrogenase Deficiency Presenting as Rhabdomyolysis: First Case Report from Sri Lanka.
very-long-chain acyl-coa dehydrogenase deficiency
Very-long-chain acyl-CoA dehydrogenase deficiency: molecular genetics of a mitochondrial membrane enzyme.
very-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]
very-long-chain acyl-coa dehydrogenase deficiency
[A two-year-old infant with a myopathic form of very-long-chain Acyl-CoA dehydrogenase deficiency]
very-long-chain acyl-coa dehydrogenase deficiency
[Novel nutritional management regimen for very long-chain acyl-CoA dehydrogenase deficiency]
very-long-chain acyl-coa dehydrogenase deficiency
[The advisory report 'Neonatal screening' from the Health Council of The Netherlands]
very-long-chain acyl-coa dehydrogenase deficiency
[Very-long-chain acyl-CoA dehydrogenase deficiency presenting with recurrent rhabdomyolysis in an adult]
very-long-chain acyl-coa dehydrogenase deficiency
[Very-long-chain acyl-CoA dehydrogenase deficiency]
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1.3.8.9 very-long-chain acyl-CoA dehydrogenase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
