Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency

J Pediatr. 1980 Dec;97(6):964-6. doi: 10.1016/s0022-3476(80)80437-9.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / drug therapy*
  • Biotin / therapeutic use*
  • Carbon-Carbon Ligases*
  • Cells, Cultured
  • Child
  • Female
  • Fibroblasts / enzymology
  • Humans
  • Leukocytes / enzymology
  • Ligases / blood
  • Ligases / deficiency*
  • Male

Substances

  • Biotin
  • Ligases
  • Carbon-Carbon Ligases
  • propionyl CoA carboxylase (ATP-hydrolyzing)