Associated Papers
Hematopoietic Stem-Cell Gene Therapy for Cystinosis.
Barshop BA et al.
The New England Journal of Medicine, 2026
Ocular Involvement in Patients with Infantile Nephropathic Cystinosis.
Üzüm S et al.
Turkish Journal of Ophthalmology, 2024
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
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
Nephrogenic Diabetes Insipidus in a 10-mo-old Infant: Complication of Nephropathic Cystinosis.
Singh A et al.
Indian Journal of Pediatrics, 2023
Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis.
Keidel L et al.
The British Journal of Ophthalmology, 2023
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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 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
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Emma F et al.
Kidney International, 2021
Testicular function in males with infantile nephropathic cystinosis.
Rohayem J et al.
Human Reproduction (oxford, England), 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 based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner K et al.
Molecular Genetics and Metabolism Reports, 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
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
CTNS mutations in publicly-available human cystinosis cell lines.
Zykovich A et al.
Molecular Genetics and Metabolism Reports, 2015
Common mutation causes cystinosis in the majority of black South African patients.
Owen EP et al.
Pediatric Nephrology (berlin, Germany), 2015
Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R et al.
Pediatric Nephrology (berlin, Germany), 2012
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2009
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
Phenotypic variability in cystinosis: Lessons from an atypical case.
Toso D et al.
Nefrologia, 0