Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency

J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777.
No abstract available

Publication types

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

MeSH terms

  • Antioxidants / therapeutic use*
  • Carnitine / deficiency*
  • Carnitine / metabolism
  • Carnitine / therapeutic use
  • Cells, Cultured
  • Child, Preschool
  • Female
  • Fibroblasts / metabolism
  • Humans
  • Male
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy
  • Palmitates / metabolism
  • Spain

Substances

  • Antioxidants
  • Palmitates
  • Carnitine