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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
Témata:
Clinical Science and Outcome
On-line přístup: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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