Article
Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations.
Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia - 1 Jan 2026
Abdallah Zeinab Youssef, Helmy Rasha, Nazim Walaa S, Nabhan Marwa M, Abdelaziz Hanan, Soliman Hala N, Saad Ahmed K, Ibrahim Mona, Gouda Amr Sobhi, Fateen Ekram, Soliman Neveen A
Abstract excerpt
BACKGROUND: Nephropathic cystinosis (NC) is an autosomal recessive disease. Mutations in the CTNS gene encoding the lysosomal membrane cystine transporter cystinosin are identified as the molecular basis of cystinosis. AIM: To evaluate the clinical phenotype, biochemical profile, and screen for mutations in CTNS genes in NC patients. METHODS: Thirteen patients from 11 unrelated families were clinically suspected,...
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