Natural history of adolescent-onset cystinosis


Cystinosis is a rare autosomal recessive disease caused by mutations of the CTNS gene in which cystine accumulates throughout the body as a result of a defective efflux of cystine from lysosomes. Three phenotypic forms have been described according to the age of onset and the severity of the clinical symptoms: infantile, intermediate, and ocular non… (More)
DOI: 10.1007/s00467-011-1904-z


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@article{Midgley2011NaturalHO, title={Natural history of adolescent-onset cystinosis}, author={Julian Paul Midgley and Reyhan El-Kares and François Mathieu and Paul R. Goodyer}, journal={Pediatric Nephrology}, year={2011}, volume={26}, pages={1335-1337} }