Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature

Carbamoyl phosphate synthetase I (CPS1) deficiency (CPS1D), is a rare autosomal recessive disorder, characterized by life-threatening hyperammonemia. In this study, we presented the detailed clinical features and genetic analysis of two patients with neonatal-onset CPS1D carrying two compound hetero...

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Detalles Bibliográficos
Autores principales: Yan, Beibei, Wang, Chao, Zhang, Kaihui, Zhang, Haiyan, Gao, Min, Lv, Yuqiang, Li, Xiaoying, Liu, Yi, Gai, Zhongtao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713721/
https://www.ncbi.nlm.nih.gov/pubmed/31507628
http://dx.doi.org/10.3389/fgene.2019.00718

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6713721/
https://www.ncbi.nlm.nih.gov/pubmed/31507628
http://dx.doi.org/10.3389/fgene.2019.00718

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