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Disruption of Urate Transport in Familial Renal Glucosuria and Report on SGLT2 ...

Aires, I; Santos, AR; Bogarin, R; Genc, G; Pratas, J; Ozkaya, O; Carvalho, F; Rueff, J; Nolasco, F; Calado, J

Familial renal glucosuria (FRG) is a rare co -dominantly inherited benign phenotype characterized by the presence of glucose in the urine. It is caused by mutations in the SLC5A2 gene that encodes SGLT2, a Na+ -glucose co -transporter. The purpose of our current work was twofold: to characterize the molecular and phenotype findings of an FRG cohort and, in addition, to detail the SGLT2 expression in the adult h...


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