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

Abstract 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 wer...

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Principais autores: Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu, Lianshu Han
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2020-12-01
Serier:Orphanet Journal of Rare Diseases
Fag:
Hyperammonemia
Urea cycle disorders
Ornithine transcarbamylase deficiency
OTC
Gene mutation
Online adgang:https://doi.org/10.1186/s13023-020-01606-2
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