Associated Papers
Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.
Santoro A et al.
Experimental and Molecular Pathology, 2025
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M et al.
Pediatric Nephrology (berlin, Germany), 2023
A Successful Adolescent Pregnancy in a Patient With Cystinosis and CKD Not Yet on Kidney Replacement Therapy.
Robertson G et al.
Kidney International Reports, 2022
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K et al.
Cells, 2022
Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R
Pediatric Nephrology (berlin, Germany), 2021
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.
Sadeghipour F et al.
Human Genome Variation, 2017
Common mutation causes cystinosis in the majority of black South African patients.
Owen EP et al.
Pediatric Nephrology (berlin, Germany), 2015
Two novel CTNS mutations in cystinosis patients in Thailand.
Yeetong P et al.
Gene, 2012
[Cystinosis--an orphan disease. Pathogenesis and current treatment].
Zachwieja J
Przeglad Lekarski, 2006
Select a paper to view details