Associated Papers
Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.
Dong L et al.
Endocrine, 2025
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F et al.
European Journal of Neurology, 2020
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Hisahara S et al.
The Tohoku Journal of Experimental Medicine, 2015
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