A new case of holocarboxylase synthetase deficiency

J Inherit Metab Dis. 1989;12(3):329-30. doi: 10.1007/BF01799228.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biotin / therapeutic use
  • Carbon-Nitrogen Ligases*
  • Cells, Cultured
  • Female
  • Humans
  • Infant, Newborn
  • Ligases / deficiency*
  • Substrate Specificity

Substances

  • Biotin
  • Ligases
  • Carbon-Nitrogen Ligases
  • holocarboxylase synthetases