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Effects of long-term cysteamine treatment in patients with cystinosis

Cystinosis is a rare autosomal-recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. Patients with infantile nephropathic cystinosis, the most...

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Detalles Bibliográficos
Autores principales: Ariceta, Gema, Giordano, Vincenzo, Santos, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394685/
https://www.ncbi.nlm.nih.gov/pubmed/29260317
http://dx.doi.org/10.1007/s00467-017-3856-4