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

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. Meanwhi...

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Bibliografiska uppgifter
I publikationen:Mol Genet Genomic Med
Huvudupphovsmän: Zheng, Zhenzhu, Lin, Yiming, Lin, Weihua, Zhu, Lin, Jiang, Mengyi, Wang, Wenjun, Fu, Qingliu
Materialtyp: Artigo
Språk:Inglês
Publicerad: John Wiley and Sons Inc. 2020
Ämnen:
Original Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7336749/
https://ncbi.nlm.nih.gov/pubmed/32410394
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1301
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