Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient

J Inherit Metab Dis. 1998 Jun;21(3):262-7. doi: 10.1023/a:1005324323401.
No abstract available

Publication types

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

MeSH terms

  • Carnitine / metabolism*
  • Carrier Proteins / genetics*
  • Cells, Cultured
  • Fatty Acids / metabolism
  • Female
  • Fibroblasts
  • Humans
  • Infant
  • Lipid Metabolism, Inborn Errors / genetics*
  • Lipid Metabolism, Inborn Errors / metabolism
  • Male

Substances

  • Carrier Proteins
  • Fatty Acids
  • Carnitine

Grants and funding