Determination of urinary acylcarnitines: a complementary aid for the high-risk screening of several organic acidurias using a simple and reliable GC/MS-based method.
Cyr
D
D
University of Sherbrooke Medical Center, Department of Medical Genetics, Sherbrooke, Quebec, Canada. d.cyr@courrier.usherb.ca
Giguère
R
R
Giguère
Y
Y
Lemieux
B
B
D002264:Carboxylic Acids / Q000652:urine*; D002331:Carnitine / Q000031:analogs & derivatives* / Q000652:urine; D008401:Gas Chromatography-Mass Spectrometry / Q000379:methods; D006801:Humans; D008403:Mass Screening / Q000379:methods; D013058:Mass Spectrometry / Q000379:methods; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000652:urine; D015203:Reproducibility of Results; D016339:Spectrometry, Mass, Fast Atom Bombardment / Q000379:methods
D002264:Carboxylic Acids; C116917:acylcarnitine; D002331:Carnitine