Declaration: Novel SLC3A1 mutation in a cystinuria patient with xanthine stones: a case report

BACKGROUND: Cystinuria and xanthinuria are both rare genetic diseases involving urinary calculi. However, cases combining these two disorders have not yet been reported. CASE PRESENTATION: In this study, we report a case of cystinuria with xanthine stones and hyperuricemia. The 23-year-old male pati...

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Detalles Bibliográficos
Autores principales: Bai, Peide, Zhang, WenZhao, Lai, Longhui, Huang, Haichao, Qin, Jiaxuan, Duan, Bo, Wang, Huiqiang, Chen, Yuedong, Jia, Yuanyuan, Xing, Jinchun, Wang, Tao, Chen, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391995/
https://www.ncbi.nlm.nih.gov/pubmed/37525149
http://dx.doi.org/10.1186/s12894-023-01300-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391995/
https://www.ncbi.nlm.nih.gov/pubmed/37525149
http://dx.doi.org/10.1186/s12894-023-01300-y

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