Natural history of adolescent-onset cystinosis

Abstract

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

Topics

1 Figure or Table

Cite this paper

@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} }