Cystinuria: an update on pathophysiology, genetics, and clinical management-Reference-Cited by-同舟云学术

Cystinuria: an update on pathophysiology, genetics, and clinical management

Published:2021-11-23 Issue: Volume: Page:
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

D’Ambrosio Viola,Capolongo Giovanna,Goldfarb David,Gambaro Giovanni,Ferraro Pietro Manuel^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

https://link.springer.com/content/pdf/10.1007/s00467-021-05342-y.pdf

Reference52 articles.

1. 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

2. Streeper NM, Wertheim ML, Nakada SY, Penniston KL (2017) Cystine stone formers have impaired health-related quality of life compared with noncystine stone formers: a case-referent study piloting the Wisconsin Stone Quality of Life Questionnaire among patients with cystine stones. J Endourol 31:S48–S53. https://doi.org/10.1089/end.2016.0564

3. Barbey F, Joly D, Rieu P et al (2000) Medical treatment of cystinuria: critical reappraisal of long-term results. J Urol 163:1419–1423. https://doi.org/10.1016/s0022-5347(05)67633-1

4. Leslie SW, Sajjad H, Nazzal L (2020) Cystinuria. In: StatPearls. StatPearls Publishing, Treasure Island (FL). https://www.ncbi.nlm.nih.gov/books/NBK470527/

5. Calonge MJ, Gasparini P, Chillarón J et al (1994) Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. Nat Genet 6:420–425. https://doi.org/10.1038/ng0494-420

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