Significance of bound glutarate in the diagnosis of glutaric aciduria type I.
Ribes
A
A
Institut de Bioquímica Clínica, Diputació de Barcelona, Spain.
Riudor
E
E
Briones
P
P
Christensen
E
E
Campistol
J
J
Millington
D S
DS
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000652:urine*; D002331:Carnitine / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D008401:Gas Chromatography-Mass Spectrometry; D005977:Glutarates / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D016339:Spectrometry, Mass, Fast Atom Bombardment
D005977:Glutarates; C053168:glutarylcarnitine; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine