[Biotinidase deficiency: importance of its neonatal diagnosis and early treatment]

An Esp Pediatr. 1999 May;50(5):504-6.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Amidohydrolases / genetics
  • Biotin / therapeutic use*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / genetics
  • Point Mutation / genetics
  • Time Factors

Substances

  • Biotin
  • Amidohydrolases