Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis

J Inherit Metab Dis. 1999 May;22(3):289-92. doi: 10.1023/a:1005575214110.
No abstract available

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency
  • Acyl-CoA Dehydrogenase
  • Child
  • Chromatography, Gas / methods
  • Chromatography, High Pressure Liquid / methods
  • Fatty Acid Desaturases / deficiency
  • Fatty Acids / metabolism*
  • Gas Chromatography-Mass Spectrometry / methods
  • Humans
  • Lipid Metabolism, Inborn Errors / urine*
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
  • Oxidation-Reduction
  • Quality Control

Substances

  • Fatty Acids
  • 3-Hydroxyacyl CoA Dehydrogenases
  • Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase
  • Fatty Acid Desaturases
  • Acyl-CoA Dehydrogenase