×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency.
21814341
2011
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse.
11590124
2001
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
22841441
2012
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.
16464760
2005
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.
26927351
2016
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties.
17514507
2007
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
24801231
2014
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis.
25338548
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency.
19327992
2009
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
25652019
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.
25834949
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
11158518
2001
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
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.
25242572
2014
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
15210884
2004
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.
14517516
2003
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
25087612
2014
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Successful management of pregnancy with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
25655073
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
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.
8845838
1996
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
26385305
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death.
10077518
1999
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy.
17999356
2007
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
26182500
2015
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
25214167
2014
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
7479827
1995
×
Entrez Id:
37
Gene Symbol:
ACADVL
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
1.000
GeneticVariation
CLINVAR
Very-long-chain acyl-coenzyme a dehydrogenase deficiency in mice.
12893739
2003