Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency.

Authors :: Barshop BA
Nyhan WL
Climent C
Rubio V
Source :: Journal of inherited metabolic disease [J Inherit Metab Dis] 2001 Aug; Vol. 24 (4), pp. 513-4.
Publication Year :: 2001

Subjects :: Child
False Negative Reactions
Female
Humans
Mutation
Ornithine Carbamoyltransferase genetics
Orotic Acid urine
Uracil urine
Allopurinol
Genetic Carrier Screening
Ornithine Carbamoyltransferase Deficiency Disease

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