A novel ACAD8 mutation in asymptomatic patients with isobutyryl-CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum

Clin Genet. 2015 Feb;87(2):196-8. doi: 10.1111/cge.12350. Epub 2014 Feb 21.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acyl-CoA Dehydrogenase / deficiency*
  • Acyl-CoA Dehydrogenase / genetics
  • Acyl-CoA Dehydrogenases / genetics*
  • Amino Acid Metabolism, Inborn Errors / genetics*
  • DNA Mutational Analysis
  • Exons
  • Humans
  • Korea
  • Mutation*

Substances

  • Acyl-CoA Dehydrogenases
  • ACAD8 protein, human
  • Acyl-CoA Dehydrogenase

Supplementary concepts

  • Isobutyryl-CoA dehydrogenase deficiency