Cystinosis: a review
Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Mohamed A. Elmonem, Koenraad R. Veys, Neveen A. Soliman, Maria van Dyck, Lambertus P. van den Heuvel and Elena Levtchenko Source Type: research