Excellent long-term outcome of renal transplantation in cystinosis patients-Reference-Cited by-同舟云学术

Excellent long-term outcome of renal transplantation in cystinosis patients

Published:2015-07-25 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Cohen Camille,Charbit Marina,Chadefaux-Vekemans Bernadette,Giral Magali,Garrigue Valérie,Kessler Michèle,Antoine Corinne,Snanoudj Renaud,Niaudet Patrick,Kreis Henri,Legendre Christophe,Servais Aude

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0307-9.pdf

Reference31 articles.

1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–21.

2. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18:319–24.

3. Anikster Y, Lucero C, Touchman JW, Huizing M, McDowell G, Shotelersuk V, et al. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Mol Genet Metab. 1999;66:111–6.

4. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van’t Hoff W, et al. Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am J Hum Genet. 1999;65:353–9.

5. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science. 1982;217:1263–5.

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