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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
Assuntos:
Clinical Science and Outcome
Acesso em linha: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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