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Article

How reliable is the allopurinol load in detecting carriers for ornithine transcarbamylase deficiency?

Journal of inherited metabolic disease - 1 Jan 2004

Grünewald S, Fairbanks L, Genet S, Cranston T, Hüsing J, Leonard J V, Champion M P

Abstract excerpt

The allopurinol test aims to distinguish carriers and noncarriers for ornithine transcarbamylase (OTC) deficiency. We have evaluated the reliability of the test in at-risk females of known genotype. Results based on urine orotidine and/or orotic acid measurement were compared in terms of sensitivity and specificity. Retrospectively, we analysed the results of allopurinol tests in 42 women (22 confirmed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15159648
DOI: 10.1023/B:BOLI.0000028727.77454.bd

Genes

OTC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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