Associated Papers
Familial Renal Glucosuria and Potential Pharmacogenetic Impact on Sodium-Glucose Cotransporter-2 Inhibitors.
Allaire P et al.
Kidney360, 2025
39412882 (PubMed )
Supplement: kidney360-6-521-s005.xlsx › Table_S2._SLC5A2_Variants
Genetic and clinical characterization of familial renal glucosuria.
Xu L et al.
Clinical Kidney Journal, 2024
Performance of the ACMG-AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants.
Barata R et al.
Clinical Genetics, 2023
37349938 (PubMed )
Supplement: supplement_1.docx
Hereditary renal glycosuria, diabetes and responses to SGLT2 inhibitor.
Ren Q et al.
Journal of Diabetes, 2022
35229480 (PubMed )
Supplement: JDB-14-216-s001.xlsx › Sheet1
SLC5A2 mutations, including two novel mutations, responsible for renal glucosuria in Chinese families.
Yu L et al.
Bmc Nephrology, 2020
A novel compound heterozygous mutation in SLC5A2 contributes to familial renal glucosuria in a Chinese family, and a review of the relevant literature.
Li S et al.
Molecular Medicine Reports, 2019
A Case of Isolated Glycosuria Mediated by an SLC5A2 Gene Mutation and Characterized by Postprandial Heavy Glycosuria Without Salt Wasting.
Kim KM et al.
Electrolyte & Blood Pressure : E & Bp, 2016
The iodide-transport-defect-causing mutation R124H: a δ-amino group at position 124 is critical for maturation and trafficking of the Na+/I- symporter.
Paroder V et al.
Journal of Cell Science, 2013
Effect of kidney disease on glucose handling (including genetic defects).
Calado J et al.
Kidney International. Supplement, 2011
Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting.
Calado J et al.
Kidney International, 2006
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