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Clinical, biochemical, and molecular spectrum of nephropathic cystinosis: Two novel CTNS mutations

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 muta...

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Principais autores: Zeinab Youssef Abdallah, Rasha Helmy, Walaa S. Nazim, Marwa M. Nabhan, Hanan Abdelaziz, Hala N. Soliman, Ahmed K. Saad, Mona Ibrahim, Amr Sobhi Gouda, Ekram Fateen, Neveen A. Soliman
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer Medknow Publications 2026-01-01
coleção:Saudi Journal of Kidney Diseases and Transplantation
Assuntos:
chitotriosidase
chronic kidney disease staging
ctns gene
nephropathic cystinosis
thyroid stimulating hormone
Acesso em linha:https://journals.lww.com/10.4103/sjkdt.sjkdt_376_21
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