Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body. Cystinosis is caused by mutant cystinosin, the cystine transport protein located in lysosomal membranes, leading to systemic...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Col·lecció: | Indian Journal of Pathology and Microbiology |
| Matèries: | |
| Accés en línia: | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=3;spage=457;epage=460;aulast=Matthai |
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