[Holocarboxylase synthetase deficiency (early-onset multiple carboxylase deficiency)]

Ryoikibetsu Shokogun Shirizu. 1998:(19 Pt 2):219-22.
[Article in Japanese]
No abstract available

Publication types

  • Review

MeSH terms

  • Age of Onset
  • Biomarkers / analysis
  • Biotin / administration & dosage
  • Biotin / therapeutic use
  • Carbon-Nitrogen Ligases / analysis
  • Carbon-Nitrogen Ligases / deficiency*
  • Carbon-Nitrogen Ligases / genetics
  • Diagnosis, Differential
  • Humans
  • Infant
  • Infant, Newborn
  • Multiple Carboxylase Deficiency* / diagnosis
  • Multiple Carboxylase Deficiency* / etiology
  • Mutation
  • Prognosis

Substances

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