Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency

Clin Chem. 2003 Apr;49(4):660-2. doi: 10.1373/49.4.660.
No abstract available

MeSH terms

  • Carboxy-Lyases / deficiency*
  • Carnitine / analogs & derivatives*
  • Carnitine / analysis*
  • Child, Preschool
  • Humans
  • Infant
  • Infant, Newborn
  • Neonatal Screening / methods*
  • Reference Values
  • Spectrometry, Mass, Electrospray Ionization

Substances

  • Carboxy-Lyases
  • malonyl-CoA decarboxylase
  • Carnitine

Associated data

  • OMIM/248360