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A case report of adult-onset COQ8B nephropathy presenting focal segmental glomerulosclerosis with granular swollen podocytes

BACKGROUND: Primary coenzyme Q10 (CoQ10) deficiency of genetic origin is one of a few treatable focal segmental glomerulosclerosis (FSGS). Renal morphologic evidence for COQ8B mutation and CoQ10 deficiencies of other gene mutations is assessed using electron microscopy with marked increase of abnorm...

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Detalhes bibliográficos
Publicado no:BMC Nephrol
Main Authors: Maeoka, Yujiro, Doi, Toshiki, Aizawa, Masaho, Miyasako, Kisho, Hirashio, Shuma, Masuda, Yukinari, Kishita, Yoshihito, Okazaki, Yasushi, Murayama, Kei, Imasawa, Toshiyuki, Hara, Shigeo, Masaki, Takao
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7456044/
https://ncbi.nlm.nih.gov/pubmed/32859164
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-020-02040-z
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