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dc.contributor.authorEmma, Francesco
dc.contributor.authorNesterova, Galina
dc.contributor.authorLangman, Craig
dc.contributor.authorLabbe, Antoine
dc.contributor.authorCherqui, Stephanie
dc.contributor.authorGoodyer, Paul
dc.contributor.authorJanssen, Mirian C.
dc.contributor.authorGreco, Marcella
dc.contributor.authorTopaloglu, Rezan
dc.contributor.authorElenberg, Ewa
dc.contributor.authorDohil, Ranjan
dc.contributor.authorTrauner, Doris
dc.contributor.authorAntignac, Corinne
dc.contributor.authorCochat, Pierre
dc.contributor.authorKaskel, Frederick
dc.contributor.authorServais, Aude
dc.contributor.authorWuehl, Elke
dc.contributor.authorNiaudet, Patrick
dc.contributor.authorVan't Hoff, William
dc.contributor.authorGahl, William
dc.contributor.authorLevtchenko, Elena
dc.date.accessioned2019-12-10T10:49:49Z
dc.date.available2019-12-10T10:49:49Z
dc.date.issued2014
dc.identifier.issn0931-0509
dc.identifier.urihttps://doi.org/10.1093/ndt/gfu090
dc.identifier.urihttp://hdl.handle.net/11655/14269
dc.description.abstractCystinosis 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 frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.
dc.language.isoen
dc.publisherOxford Univ Press
dc.relation.isversionof10.1093/ndt/gfu090
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTransplantation
dc.subjectUrology & Nephrology
dc.titleNephropathic Cystinosis: An International Consensus Document
dc.typeinfo:eu-repo/semantics/review
dc.relation.journalNephrology Dialysis Transplantation
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume29
dc.identifier.startpage87
dc.identifier.endpage94
dc.description.indexWoS
dc.description.indexScopus


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