A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia-Reference-Cited by-同舟云学术

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

Published:2021-04-24 Issue:8 Volume:13 Page:688-692
ISSN:1753-0393
Container-title:Journal of Diabetes
language:en
Short-container-title:Journal of Diabetes

Author:

Papadimitriou Dimitrios T.¹²^ORCID,Manolakos Emmanouil³,Dermitzaki Eleni¹,Filiousi Fotini⁴,Papoulidis Ioannis²,Zoupanos Georges⁵,Provenzano Aldesia⁶,Mastorakos George²

Affiliation:

1. Department of Pediatric‐Adolescent Endocrinology & Diabetes Athens Medical Center Athens Greece

2. Endocrine Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School University of Athens Athens Greece

3. Access to Genome‐ATG Athens‐Thessaloniki Greece

4. Pediatrician Chania Greece

5. Department of Pediatric Urology Athens Medical Center Athens Greece

6. Medical Genetics Unit, Department of Clinical and Experimental Biomedical Sciences "Mario Serio" University of Florence Florence Italy

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1753-0407.13183

Reference15 articles.

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2. Influence of familial renal glycosuria due to mutations in the SLC5A2 gene on changes in glucose tolerance over time;Ottosson‐Laakso E;PLoS One,2016

3. Clinical and genetic analysis in a patient with primary renal glucosuria: Identification of a novel mutation in the SLC5A2 gene;LEE YW;Exp Ther Med,2013

4. Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt‐wasting;Calado J;Kidney Int,2006

5. Novel SLC5A2 mutation contributes to familial renal glucosuria: Abnormal expression in renal tissues;Yu L;Exp Ther Med,2016

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1. Role of SLC5A2 polymorphisms and effects of genetic polymorphism on sodium glucose cotransporter 2 inhibitorsinhibitor response;Molecular Biology Reports;2023-10-11

2. Case report: Identification of three novel compound heterozygous SGLT2 variants in three Chinese pediatric patients with familial renal glucosuria;Frontiers in Pediatrics;2022-11-28