Hereditary Cystinosis
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Publisher
Elsevier
Reference82 articles.
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4. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin;Attard;Hum. Mol. Genet.,1999
5. FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis;Bendavid;Hum. Genet.,2004
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1. Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis;Pediatric Nephrology;2022-04-20
2. LC-MS/MS measurement of leukocyte cystine; effect of preanalytic factors;Talanta;2020-03
3. The Role of Cystinosin in the Intermediary Thiol Metabolism and Redox Homeostasis in Kidney Proximal Tubular Cells;Antioxidants;2018-12-03
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