Mutational spectrum in eight Korean patients with 3-methylcrotonyl-CoA carboxylase deficiency

Clin Genet. 2012 Jan;81(1):96-8. doi: 10.1111/j.1399-0004.2011.01704.x.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Carbon-Carbon Ligases / deficiency
  • Carbon-Carbon Ligases / genetics
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation*
  • Neonatal Screening
  • Republic of Korea / epidemiology
  • Urea Cycle Disorders, Inborn / epidemiology
  • Urea Cycle Disorders, Inborn / genetics*

Substances

  • Carbon-Carbon Ligases

Supplementary concepts

  • 3-methylcrotonyl CoA carboxylase 1 deficiency
  • 3-methylcrotonyl CoA carboxylase 2 deficiency