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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.

Orphanet journal of rare diseases - 3 Dec 2020

Lu Deyun, Han Feng, Qiu Wenjuan, Zhang Huiwen, Ye Jun, Liang Lili, Wang Yu, Ji Wenjun, Zhan Xia, Gu Xuefan, Han Lianshu

Abstract excerpt

BACKGROUND: This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype. METHODS: Sixty-nine patients with OTCD were enrolled between 2004 and 2019. Clinical and laboratory data were reviewed retrospectively from medical records. RESULTS:...

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Identifiers

PMID: 33272297
DOI: 10.1186/s13023-020-01606-2
PMCID: PMC7712605

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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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