New aspects of the pathogenesis of cystinosis

Cystinosis is a lysosomal transport disorder characterized by an intra-lysosomal accumulation of cystine, the disulfide of the amino acid cysteine. It is the most common inherited cause of the renal Fanconi syndrome. There are various clinical forms, infantile, juvenile, and ocular, based on age of...

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Bibliographic Details
Published in:Pediatric Nephrology : Journal of the International Pediatric Nephrology Association, Vol. 18, No. 3 (2003), p. 207-215
Main Author: Kalatzis, Vasiliki
Other Involved Persons: Antignac, Corinne
Format: electronic Article
Item Description:Electronic Publication
Physical Description:Online-Ressource
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