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Article

Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Dec 2003

Huang Yuan-Te, Chien Yin--Hsiu, Yeh Hui-Ying, Lin Shio-Jean, Lu Frank Li, Chou Shi-Ping, Lin Jing-Meei, Chiang Shu-Chuan, Hwu Wuh-Liang

Abstract excerpt

BACKGROUND AND PURPOSE: Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder. It is an X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have not been assessed in Taiwanese. This study analyzed the phenotype and genotype of OTC deficiency in Taiwanese. METHODS: During the period from January 1993 to...

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PMID: 14976564

Genes

OTC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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