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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2022
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| 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 |