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COQ8B nephropathy: Early detection and optimal treatment

BACKGROUND: Mutations in COQ8B (*615567) as a defect of coenzyme Q10 (CoQ10) cause steroid resistant nephrotic syndrome (SRNS). METHODS: To define the clinical course and prognosis of COQ8B nephropathy, we retrospectively assessed the genotype and phenotype in patients with COQ8B mutations from Chin...

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Detalles Bibliográficos
Autores principales: Song, Xiaoxiang, Fang, Xiaoyan, Tang, Xiaoshan, Cao, Qi, Zhai, Yihui, Chen, Jing, Liu, Jialu, Zhang, Zhiqing, Xiang, Tianchao, Qian, Yanyan, Wu, Bingbing, Wang, Huijun, Zhou, Wenhao, Liu, Cuihua, Shen, Qian, Xu, Hong, Rao, Jia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434746/
https://www.ncbi.nlm.nih.gov/pubmed/32543055
http://dx.doi.org/10.1002/mgg3.1360