Associated Papers
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences
Genetic and clinical characterization of familial renal glucosuria.
Xu L et al.
Clinical Kidney Journal, 2024
38344682 (PubMed )
Supplement: sfad265_supplemental_file.docx
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
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin A et al.
Life Science Alliance, 2023
36635046 (PubMed )
Supplement: LSA-2022-01673_TableS1.xlsx › Sheet1
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1
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
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 recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.
Zhao X et al.
Scientific Reports, 2016
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
Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R et al.
Journal of the American Society of Nephrology : Jasn, 2003
[Renal glycosuria: report of two cases].
Rebelo JC et al.
Jornal Brasileiro De Nefrologia, 0
Isolated renal glucosuria due to SLC5A2 gene mutation: a rare presentation.
Dua P et al.
Jornal Brasileiro De Nefrologia, 0
Select a paper to view details