Late-Onset Nephropathic Cystinosis: Clinical Presentation, Outcome, and Genotyping

Background and objectives: Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of on...

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Главные авторы: Servais, Aude, Morinière, Vincent, Grünfeld, Jean-Pierre, Noël, Laure-Hélène, Goujon, Jean-Michel, Chadefaux-Vekemans, Bernadette, Antignac, Corinne
Формат: Artigo
Язык:Inglês
Опубликовано: American Society of Nephrology 2008
Предметы:
Clinical Nephrology
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2390982/
https://ncbi.nlm.nih.gov/pubmed/18178779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01740407
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