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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Nephropathic cystinosis in Poland: a 40-year retrospective study.
Sikora P et al.
Polish Archives of Internal Medicine, 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
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
Long-term outcome of nephropathic cystinosis: a 20-year single-center experience.
Greco M et al.
Pediatric Nephrology (berlin, Germany), 2010
Mutational spectrum of the CTNS gene in Italy.
Mason S et al.
European Journal of Human Genetics : Ejhg, 2003
[Lysosomal transport disorders: cystinosis and sialic acid storage disorders].
Eto Y
Ryoikibetsu Shokogun Shirizu, 1998
[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].
Yano T et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi F et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0
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