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COQ8B nephropathy: Early detection and optimal treatment

Abstract 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 fr...

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Principais autores: Xiaoxiang Song, Xiaoyan Fang, Xiaoshan Tang, Qi Cao, Yihui Zhai, Jing Chen, Jialu Liu, Zhiqing Zhang, Tianchao Xiang, Yanyan Qian, Bingbing Wu, Huijun Wang, Wenhao Zhou, Cuihua Liu, Qian Shen, Hong Xu, Jia Rao
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-08-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
CoQ10
COQ8B
proteinuria
steroid resistant nephrotic syndrome (SRNS)
transplantation
Acesso em linha:https://doi.org/10.1002/mgg3.1360
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