Nephropathic cystinosis in children: An overlooked disease
Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children with renal Fanconi syn-drome and siblings of d...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2009-01-01
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Series: | Saudi Journal of Kidney Diseases and Transplantation |
Subjects: | |
Online Access: | http://www.sjkdt.org/article.asp?issn=1319-2442;year=2009;volume=20;issue=3;spage=436;epage=442;aulast=Soliman |