Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Abstract Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL). Ornithine transcarbamylase deficiency (OTCD) results from mutations in the OTC....

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Bibliographic Details
Main Authors: Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
argininosuccinate lyase deficiency
next‐generation sequencing
ornithine transcarbamylase deficiency
urea cycle disorder
Online Access:https://doi.org/10.1002/mgg3.1301

Internet

https://doi.org/10.1002/mgg3.1301

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