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Autor:
Mugahid Elamin, Ghada Alzhrany, Reem Mohamed, Wafa Daw, Bashiar Alabbasi, Muawia Ahmed, Yassir Bakhiet, Yomna Aloufi, Majed Aloufi
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-5 (2024)
Abstract Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues. It has been classified into three subtypes based on its clinical presentation: severe inf
Externí odkaz:
https://doaj.org/article/722cc4ca0e8f471bb624b695f3c42612