Associated Papers
Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia.
Sahli C et al.
Bmc Genomic Data, 2026
Long-term outcomes in nephropathic cystinosis: a review.
Chang HE et al.
Pediatric Nephrology (berlin, Germany), 2026
Therapeutic strategies in cystinosis: A focus on cysteamine and beyond.
Santoro A et al.
Experimental and Molecular Pathology, 2025
Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye.
Kablan A et al.
Clinical Genetics, 2025
Neurological involvement in 51 cystinosis patients: A single-center experience.
Burgac E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.
Mohammadi Chermahini Z et al.
Advanced Biomedical Research, 2024
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.
El Younsi M et al.
Pediatric Nephrology (berlin, Germany), 2023
Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S et al.
Journal of Medical Case Reports, 2022
A Bartter syndrome patient presenting with severe growth retardation: Answers.
Erfidan G et al.
Pediatric Nephrology (berlin, Germany), 2022
More than tubular dysfunction: cystinosis and kidney outcomes.
Atmis B et al.
Journal of Nephrology, 2022
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner K et al.
Cells, 2022
Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.
Guan YJ et al.
Frontiers in Pediatrics, 2022
Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov KV et al.
Frontiers in Genetics, 2022
Cystinosis induced by CTNS gene mutation: a rare disease study.
Wang X et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F et al.
Kidney International, 2021
Nephropathic cystinosis: an update on genetic conditioning.
Topaloglu R
Pediatric Nephrology (berlin, Germany), 2021
Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige T et al.
European Journal of Human Genetics : Ejhg, 2020
Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
David D et al.
Nephron, 2019
A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi M et al.
Frontiers in Pediatrics, 2019
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.
Topaloglu R et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation.
Doneray H et al.
The Eurasian Journal of Medicine, 2017
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
Cystinosis in Eastern Turkey.
Doğan M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.
Önenli-Mungan N et al.
The Turkish Journal of Pediatrics, 2016
Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis.
Soliman NA et al.
Jimd Reports, 2014
Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.
Al-Jasmi FA et al.
Jimd Reports, 2013
The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
Shahkarami S et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2013
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R et al.
Pediatric Nephrology (berlin, Germany), 2012
Characterization of CTNS mutations in Arab patients with cystinosis.
Aldahmesh MA et al.
Ophthalmic Genetics, 2009
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
Wamelink MM et al.
Human Mutation, 2008
[Cystinosis--an orphan disease. Pathogenesis and current treatment].
Zachwieja J
Przeglad Lekarski, 2006
Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
Jaradat S et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0