MODY in Ukraine: genes, clinical phenotypes and treatment-Reference-Cited by-同舟云学术

MODY in Ukraine: genes, clinical phenotypes and treatment

Published:2017-01-01 Issue:10 Volume:30 Page:
ISSN:2191-0251
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:
Short-container-title:

Author:

Globa Evgenia,Zelinska Nataliya,Elblova Lenka,Dusatkova Petra,Cinek Ondrej,Lebl Jan,Colclough Kevin,Ellard Sian,Pruhova Stepanka

Abstract

AbstractBackground:Maturity-onset diabetes of the young (MODY) has not been previously studied in Ukraine. We investigated the genetic etiology in a selected cohort of patients with diabetes diagnosed before 18 years of age, and in their family members.Methods:Genetic testing of the most prevalent MODY genes (Results:A genetic diagnosis of MODY was made in 15/39 affected individuals from 12/36 families (33%).Conclusions:Genetic testing identified pathogenic

Publisher

Walter de Gruyter GmbH

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2017-0075/pdf

Reference100 articles.

1. Hyperexcitability to sulphonylurea in MODY3;Diabetologia,1998

2. Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology;J Pancreas (Online),2010

3. GCK gene mutations are a common cause of childhood-onset MODY (maturity-onset diabetes of the young) in Turkey;Clin Endocrinol,2016

4. Chronic diabetic complications in patients with MODY3 diabetes;Diabetologia,1998

5. Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign;Diabetologia,2012

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