Nephropathic cystinosis: an international consensus document

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are fre...

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Dettagli Bibliografici
Autori principali: Emma, Francesco, Nesterova, Galina, Langman, Craig, Labbé, Antoine, Cherqui, Stephanie, Goodyer, Paul, Janssen, Mirian C., Greco, Marcella, Topaloglu, Rezan, Elenberg, Ewa, Dohil, Ranjan, Trauner, Doris, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick, Servais, Aude, Wühl, Elke, Niaudet, Patrick, Van't Hoff, William, Gahl, William, Levtchenko, Elena
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2014
Soggetti:
Clinical Science and Outcome
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4158338/
https://ncbi.nlm.nih.gov/pubmed/25165189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/ndt/gfu090
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