Cargando…

Case series and literature review of primary hyperoxaluria type 1 in Chinese patients

Based on the single-center case reports and all reported patients with primary hyperoxaluria type 1 (PH1) in China, this study discussed the clinical and genetic characteristics of this disease retrospectively. We reported and validated a novel genetic variation c.302 T > G: the clinical phenotyp...

Descripción completa

Detalles Bibliográficos
Autores principales: Wu, Jiayu, Song, Jing, He, Yanzhao, Zhong, Cheng, Yang, Qin, Li, Qiu, Wang, Mo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598140/
https://www.ncbi.nlm.nih.gov/pubmed/37874369
http://dx.doi.org/10.1007/s00240-023-01494-8