Condition: Very long chain acyl-CoA dehydrogenase deficiency


rs1057516843 in ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 25242572 2014 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.

PMID 24503138 2014 Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.

PMID 8845838 1996 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.

PMID 26937394 2015 Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 21429517 2011 Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

PMID 19208414 2009 Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation.

PMID 14517516 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 20107901 2010 Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 20060901 2010 Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 20480395 2010 High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 16950999 2006 Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 16488171 2006 VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 10738914 2000 Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 12122118 2002 Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

PMID 27995075 2017 Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature.

rs1057516714 in ACADVL;DLG4 gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 10384387 1999 DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 18670371 2008 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.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 26881790 2016 Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

PMID 23430950 2012 Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect.

PMID 9546340 1998 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 20060901 2010 Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

PMID 7479827 1995 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

PMID 23867825 2013 The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 24898617 2014 Stilbenes and resveratrol metabolites improve mitochondrial fatty acid oxidation defects in human fibroblasts.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 21378393 2011 Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.

PMID 16443431 2006 Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 22841441 2012 Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.

rs1057516370 in ACADVL;MIR324 gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 25338548 2015 Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 11590124 2001 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

PMID 15210884 2004 A new diagnostic test for VLCAD deficiency using immunohistochemistry.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 20480395 2010 High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

PMID 23774949 2014 Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

PMID 16464760 2005 Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

PMID 10738914 2000 Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 9709714 1998 Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 9546340 1998 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PMID 16443431 2006 Rhabdomyolysis caused by an inherited metabolic disease: very long-chain acyl-CoA dehydrogenase deficiency.

PMID 24305961 2014 Muscle MRI in patients with long-chain fatty acid oxidation disorders.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 8845838 1996 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.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 17514507 2007 Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.

PMID 23798014 2013 Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening.

PMID 21429517 2011 Positive newborn screen in a normal infant of a mother with asymptomatic very long-chain Acyl-CoA dehydrogenase deficiency.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 14517516 2003 MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 9839948 1998 Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 26453363 2016 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

PMID 23418865 2013 Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations.

PMID 23867825 2013 The effect of valinomycin in fibroblasts from patients with fatty acid oxidation disorders.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 17206456 2007 A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings.

rs140629318 in DLG4;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 12213615 2002 A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 24801231 2014 Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 9546340 1998 Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset.

PMID 22847164 2012 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.

PMID 11590124 2001 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 26453363 2016 The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 10384387 1999 DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 29552494 2018 Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.

rs1057517281 in MIR324;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 8845838 1996 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.

PMID 24305961 2014 Muscle MRI in patients with long-chain fatty acid oxidation disorders.

PMID 25834949 2015 Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

PMID 21814341 2011 MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.

PMID 20060901 2010 Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.

PMID 16488171 2006 VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.

PMID 9973285 1999 Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 27246109 2016 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.

PMID 25456746 2014 Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

PMID 24263034 2013 Intermittent rhabdomyolysis with adult onset associated with a mutation in the ACADVL gene.

PMID 21932095 2012 VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment.

PMID 7479827 1995 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 18227065 2008 Structural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenase.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 9709714 1998 Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 12122118 2002 Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride.

PMID 23480858 2013 Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 11158518 2001 Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.

PMID 11914034 2002 Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

PMID 15210884 2004 A new diagnostic test for VLCAD deficiency using immunohistochemistry.

PMID 11590124 2001 Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.

PMID 12893739 2003 Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 26927351 2016 Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

PMID 26182500 2015 [Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].

PMID 25652019 2015 Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.

PMID 18670371 2008 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.

PMID 25655073 2015 Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.

PMID 28755359 2018 Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

PMID 21531094 2011 Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.

rs1057520507 in MIR324;DVL2;ACADVL gene and Very long chain acyl-CoA dehydrogenase deficiency PMID 10431122 1999 Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation.

PMID 27029698 2016 A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency.

PMID 29111448 2018 Next generation sequencing as a follow-up test in an expanded newborn screening programme.

PMID 4022672 1985 Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia.

PMID 7479827 1995 Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.

PMID 7769092 1995 Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

PMID 8554073 1996 Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

PMID 17374501 2007 Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system.

PMID 10077518 1999 Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.

PMID 17999356 2007 Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.

PMID 19327992 2009 Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.

PMID 27943070 2017 Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts.

PMID 27209629 2016 Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

PMID 26385305 2015 Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.