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Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.

Clinical genetics - 1 Sept 2017

Shao Y, Jiang M, Lin Y, Mei H, Zhang W, Cai Y, Su X, Hu H, Li X, Liu L

Abstract excerpt

The principal aim of this study was to examine the clinical manifestations, biochemical features, and molecular genetic characteristics of Chinese patients with ornithine transcarbamylase deficiency (OTCD) at a single medical center. We retrospectively analyzed 24 patients (17 males and 7 females) diagnosed with OTCD between 2006 and 2015. Five male patients had a neonatal presentation; 12 male patients had late...

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PMID: 28266016
DOI: 10.1111/cge.13004

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