Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience

Cystinuria is a known genetic disorder. To date, two genes, SLC3A1 and SLC7A9, have been identified as causes of cystinuria. In this study of 10 patients with cystinuria, which is the largest Korean cohort ever studied, we examined the patients’ phenotypes, clinical courses, and genetic analyses. A...

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Detalles Bibliográficos
Autores principales: Jeong, Jae Yong, Oh, Kyung Jin, Sohn, Jun Seok, Jun, Dae Young, Shin, Jae Il, Lee, Keum Hwa, Lee, Joo Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604214/
https://www.ncbi.nlm.nih.gov/pubmed/37893120
http://dx.doi.org/10.3390/biomedicines11102747

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10604214/
https://www.ncbi.nlm.nih.gov/pubmed/37893120
http://dx.doi.org/10.3390/biomedicines11102747

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