Genetic and clinical analysis of Chinese pediatric patients with cystinuria-Reference-Cited by-同舟云学术

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Genetic and clinical analysis of Chinese pediatric patients with cystinuria

Published:2022-12-26 Issue:1 Volume:51 Page:
ISSN:2194-7236
Container-title:Urolithiasis
language:en
Short-container-title:Urolithiasis

Author:

Zhan Ruichao,Ge Yucheng,Liu Yukun,Zhao Zhenqiang,Wang Wenying

Funder

Beijing Municipal Administration of Hospitals Clinical Medicine Development of Special Funding

Publisher

Springer Science and Business Media LLC

Subject

Urology

Link

https://link.springer.com/content/pdf/10.1007/s00240-022-01398-z.pdf

Reference21 articles.

1. Sahota A, Tischfield JA, Goldfarb DS, Ward MD, Hu L (2019) Cystinuria: genetic aspects, mouse models, and a new approach to therapy. Urolithiasis 47(1):57–66. https://doi.org/10.1007/s00240-018-1101-7

2. D’Ambrosio V, Capolongo G, Goldfarb D, Gambaro G, Ferraro PM (2022) Cystinuria: an update on pathophysiology, genetics, and clinical management. Pediatr Nephrol (Berlin, Germany) 37(8):1705–1711. https://doi.org/10.1007/s00467-021-05342-y

3. Eggermann T, Venghaus A, Zerres K (2012) Cystinuria: an inborn cause of urolithiasis. Orphanet J Rare Dis 7:19. https://doi.org/10.1186/1750-1172-7-19

4. Wu W, Yang D, Tiselius HG, Ou L, Liang Y, Zhu H, Li S, Zeng G (2014) The characteristics of the stone and urine composition in Chinese stone formers: primary report of a single-center results. Urology 83(4):732–737. https://doi.org/10.1016/j.urology.2013.11.012

5. Yuen YP, Lam CW, Lai CK, Tong SF, Li PS, Tam S, Kwan EY, Chan SY, Tsang WK, Chan KY, Mak WL, Cheng CW, Chan YW (2006) Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria. Kidney Int 69(1):123–128. https://doi.org/10.1038/sj.ki.5000003

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. Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience;Biomedicines;2023-10-11

2. Interpretation of SLC3A1 and SLC7A9 variants in cystinuria patients: The significance of the PM3 criterion and protein stability;Urolithiasis;2023-07-13

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