Cerebrospinal fluid organic acids in biotinidase deficiency

J Inherit Metab Dis. 1993;16(3):513-6. doi: 10.1007/BF00711668.
No abstract available

Publication types

  • Case Reports
  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acids / cerebrospinal fluid*
  • Adolescent
  • Amidohydrolases / deficiency*
  • Biotin / therapeutic use
  • Biotinidase
  • Child
  • Child, Preschool
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant
  • Infant, Newborn
  • Pyruvate Metabolism, Inborn Errors / cerebrospinal fluid*
  • Pyruvate Metabolism, Inborn Errors / drug therapy
  • Pyruvate Metabolism, Inborn Errors / enzymology

Substances

  • Acids
  • Biotin
  • Amidohydrolases
  • Biotinidase