The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency.
Sebesta
I
I
Department of Clinical Biochemistry, 1st Medical Faculty, Charles University, Prague, Czech Republic.
Krijt
J
J
Fairbanks
L D
LD
Simmonds
H A
HA
D000293:Adolescent; D000328:Adult; D000493:Allopurinol; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D008875:Middle Aged; D009954:Ornithine Carbamoyltransferase / Q000235:genetics; D020163:Ornithine Carbamoyltransferase Deficiency Disease; D009963:Orotic Acid / Q000652:urine; D014529:Uridine / Q000031:analogs & derivatives / Q000652:urine
D009963:Orotic Acid; D000493:Allopurinol; C008714:orotidine; D009954:Ornithine Carbamoyltransferase; D014529:Uridine