Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis-Reference-Cited by-同舟云学术

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Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis

Published:2022-04-20 Issue:1 Volume:38 Page:119-129
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

El Younsi Mariem,Trabelsi Médiha,Ben Youssef Sandra,Ouertani Inès,Hammi Yousra,Achour Ahlem,Maazoul Faouzi,Kharrat Maher,Gargah Tahar,M’rad Ridha

Funder

Ministère de l’Enseignement Supérieur, de la Recherche Scientifique et des Technologies de l'Information et de la Communication

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s00467-022-05525-1.pdf

Reference48 articles.

1. Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E (2016) Cystinosis: a review. Orphanet J Rare Dis 11:47. https://doi.org/10.1186/s13023-016-0426-y

2. Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis. N Engl J Med 347:111–121. https://doi.org/10.1056/NEJMra020552

3. Kalatzis V, Cherqui S, Antignac C, Gasnier B (2001) Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBO J 20:5940–5949. https://doi.org/10.1093/emboj/20.21.5940

4. Bellomo F, Taranta A, Petrini S, Venditti R, Rocchetti MT, Rega LR, Corallini S, Gesualdo L, De Matteis MA, Emma F (2016) Carboxyl-terminal SSLKG motif of the human cystinosin-LKG plays an important role in plasma membrane sorting. PLoS One 11:e0154805

5. Bertholet-Thomas A, Berthiller J, Tasic V, Kassai B, Otukesh H, Greco M, Ehrich J, de Paula BR, Deschênes G, Hulton S-A, Fischbach M, Soulami K, Saeed B, Valavi E, Cobenas CJ, Hacihamdioglu B, Weiler G, Cochat P, Bacchetta J (2017) Worldwide view of nephropathic cystinosis: results from a survey from 30 countries. BMC Nephrol 18:210. https://doi.org/10.1186/s12882-017-0633-3

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. The Clinical Manifestations and Disease Burden of Cystinosis in Saudi Arabia: A Single-Tertiary Center Experience;Cureus;2024-01-21

2. Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties;2023-04-02

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