Identification of rare variants causing urea cycle disorders: A clinical, genetic, and biophysical study

Urea cycle disorders (UCDs) are a group of rare metabolic conditions characterized by hyperammonemia and a broad spectrum of phenotypic severity. They are caused by the congenital deficiency in the eight biomolecules involved in urea cycle. In the present study, five cases of UCD were recruited and...

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Detalles Bibliográficos
Autores principales: Liu, Fang, Bao, Li‐sha, Liang, Ru‐jia, Zhao, Xiao‐ying, Li, Zhi, Du, Zhi‐fang, Lv, Shao‐guang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051738/
https://www.ncbi.nlm.nih.gov/pubmed/33611823
http://dx.doi.org/10.1111/jcmm.16379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051738/
https://www.ncbi.nlm.nih.gov/pubmed/33611823
http://dx.doi.org/10.1111/jcmm.16379

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