Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 h...

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Detalles Bibliográficos
Autores principales: Lu, Xiulan, Chen, Weijian, Li, Liping, Zhu, Xinyuan, Huang, Caizhi, Liu, Saijun, Yang, Yongjia, Zhao, Yaowang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372570/
https://www.ncbi.nlm.nih.gov/pubmed/30787879
http://dx.doi.org/10.3389/fphar.2019.00085

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6372570/
https://www.ncbi.nlm.nih.gov/pubmed/30787879
http://dx.doi.org/10.3389/fphar.2019.00085

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