Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

J Inherit Metab Dis. 1999 May;22(3):267-70. doi: 10.1023/a:1005590223680.
No abstract available

Publication types

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

MeSH terms

  • Carnitine Acyltransferases
  • Carrier Proteins / genetics*
  • Cytosine*
  • Female
  • Humans
  • Infant, Newborn
  • Lipid Metabolism, Inborn Errors / genetics*
  • Membrane Transport Proteins*
  • Thymine*

Substances

  • Carrier Proteins
  • Membrane Transport Proteins
  • Cytosine
  • SLC25A20 protein, human
  • Carnitine Acyltransferases
  • Thymine