Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis.
Downing
M
M
ERNDIM Executive Centre for Quality Assurance of Qualitative Urinary Organic Acid Analysis, Sheffield Children's Hospital NHS Trust, UK.
Allen
J C
JC
Bonham
J R
JR
Edwards
R G
RG
Manning
N J
NJ
Olpin
S E
SE
Pollitt
R J
RJ
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency; D042964:Acyl-CoA Dehydrogenase; D002648:Child; D002849:Chromatography, Gas / Q000379:methods; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D044943:Fatty Acid Desaturases / Q000172:deficiency; D005227:Fatty Acids / Q000378:metabolism*; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000652:urine*; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D010084:Oxidation-Reduction; D011786:Quality Control
D005227:Fatty Acids; D015094:3-Hydroxyacyl CoA Dehydrogenases; D063989:Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase; D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase