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Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BACKGROUND: Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan. Most cystinosis is the nephropathic infanti...

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Detalles Bibliográficos
Autores principales:	Higashi, Satomi, Matsunoshita, Natsuki, Otani, Masako, Tokuhiro, Etsuro, Nozu, Kandai, Ito, Shuichi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2017
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615464/ https://www.ncbi.nlm.nih.gov/pubmed/28950840 http://dx.doi.org/10.1186/s12882-017-0721-4

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