Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome

BACKGROUND: Joubert syndrome (JS) is an inherited ciliopathy characterized by a complex midbrain–hindbrain malformation and multiorgan involvement. Renal disease, mainly juvenile nephronophthisis (NPH), was reported in 25–30% patients although only ∼18% had a confirmed diagnosis of chronic kidney di...

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書誌詳細
出版年:Nephrol Dial Transplant
主要な著者: Nuovo, Sara, Fuiano, Laura, Micalizzi, Alessia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Caridi, Gianluca, D’Arrigo, Stefano, Fazzi, Elisa, Fischetto, Rita, Ghiggeri, Gian Marco, Giordano, Lucio, Leuzzi, Vincenzo, Romaniello, Romina, Signorini, Sabrina, Stringini, Gilda, Zanni, Ginevra, Romani, Marta, Valente, Enza Maria, Emma, Francesco
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
ORIGINAL ARTICLES
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7417010/
https://ncbi.nlm.nih.gov/pubmed/30403813
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfy333
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