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Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients

Cystinosis, a rare autosomal recessive lysosomal storage disorder, results in an abnormal accumulation of the amino acid cystine in multiple organs and tissues of the body. Renal symptoms typically develop in the first few months of life, with extra-renal manifestations becoming apparent over the ne...

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Detalles Bibliográficos
Autores principales: Levtchenko, Elena, Servais, Aude, Hulton, Sally A, Ariceta, Gema, Emma, Francesco, Game, David S, Lange, Karin, Lapatto, Risto, Liang, Hong, Sberro-Soussan, Rebecca, Topaloglu, Rezan, Das, Anibh M, Webb, Nicholas J A, Wanner, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9394719/
https://www.ncbi.nlm.nih.gov/pubmed/36003666
http://dx.doi.org/10.1093/ckj/sfac099