P0075EXPERT OPINION ON THE MULTIDISCIPLINARY MANAGEMENT OF CYSTINOSIS IN ADOLESCENT AND ADULT PATIENTS
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DOI: 10.1093/ndt/gfaa142.p0075
Abstract: Cystinosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene on chromosome 17p13. It affects between 1:150,000–1:200,000 live births, with a prevalence of approximately 1.6 per million. It is… read more here.
Keywords: organ effects; management; clinical recommendations; multi organ ... See more keywords