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Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria
Familial renal glucosuria (FRG) is a rare genetic condition featured by isolated glucosuria without hyperglycemia or other kidney diseases. It is caused by pathogenic mutations of the SGLT2 (Sodium-Glucose Cotransporter 2) gene, whose protein product is responsible for reabsorbing the majority of gl...
Autores principales: | Huang, Huimei, Wu, Xiantao, He, Qing, Liang, Xuqin, Ding, Yi, Li, Zhijuan, Ren, Zhanping, Bao, Ying |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9742408/ https://www.ncbi.nlm.nih.gov/pubmed/36518778 http://dx.doi.org/10.3389/fped.2022.996946 |
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