The SLC6A19 gene mutation in a young man with hyperglycinuria and nephrolithiasis: a case report and literature review

BACKGROUND: Hyperglycinuria is a rare disorder, with few reported cases, caused by either a defect in glycine metabolism or a disturbance in renal glycine reabsorption. Genetic findings of hyperglycinuria are rare and have not previously been reported in Chinese young men. CASE PRESENTATION: A 24-ye...

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Detalles Bibliográficos
Autores principales: Pan, Yang, Wang, Shangren, Liu, Li, Liu, Xiaoqiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700881/
https://www.ncbi.nlm.nih.gov/pubmed/36434624
http://dx.doi.org/10.1186/s12894-022-01147-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9700881/
https://www.ncbi.nlm.nih.gov/pubmed/36434624
http://dx.doi.org/10.1186/s12894-022-01147-9

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