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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Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2014
Teme:
Clinical Science and Outcome
Online dostop: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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