Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype

Eur J Pediatr. 2002 Mar;161(3):167-8; author reply 169. doi: 10.1007/s00431-001-0902-8.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Amidohydrolases / deficiency*
  • Amidohydrolases / genetics
  • Austria / epidemiology
  • Biotin / therapeutic use*
  • Biotinidase
  • Genotype
  • Humans
  • Infant, Newborn
  • Mass Screening
  • Multiple Carboxylase Deficiency / drug therapy*
  • Multiple Carboxylase Deficiency / epidemiology

Substances

  • Biotin
  • Amidohydrolases
  • Biotinidase