Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency

J Inherit Metab Dis. 1998 Dec;21(8):873-4. doi: 10.1023/a:1005435121933.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biotin / therapeutic use*
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Japan
  • Male
  • Multiple Carboxylase Deficiency / drug therapy
  • Multiple Carboxylase Deficiency / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length

Substances

  • Biotin