Genetic basis of cystinosis in Turkish patients: a single-center experience-Reference-Cited by-同舟云学术

Genetic basis of cystinosis in Turkish patients: a single-center experience

Published:2011-07-24 Issue:1 Volume:27 Page:115-121
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Topaloglu Rezan,Vilboux Thierry,Coskun Turgay,Ozaltin Fatih,Tinloy Brad,Gunay-Aygun Meral,Bakkaloglu Aysin,Besbas Nesrin,van den Heuvel Lambert,Kleta Robert,Gahl William A.

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-011-1942-6.pdf

Reference26 articles.

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2. Schneider JA, Rosenbloom FM, Bradley KH, Seegmiller JE (1967) Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun 29:527–531

3. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217:1263–1265

4. Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA (2005) Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy. Medicine (Baltimore) 84:137–146

5. Kalatzis V, Antignac C (2003) New aspects of the pathogenesis of cystinosis. Pediatr Nephrol 18:207–215

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