Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants

Objective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensiti...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Stanik Juraj, Barak Lubomir, Dankovcikova Adriana, Valkovicova Terezia, Skopkova Martina, Gasperikova Daniela
Format: article
Langue:EN
Publié: Sciendo 2020
Sujets:
Accès en ligne:https://doaj.org/article/c0affae03f414a0bafd86c422769f7f4
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
id oai:doaj.org-article:c0affae03f414a0bafd86c422769f7f4
record_format dspace
spelling oai:doaj.org-article:c0affae03f414a0bafd86c422769f7f42021-12-02T16:41:14ZComparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants1336-032910.2478/enr-2020-0029https://doaj.org/article/c0affae03f414a0bafd86c422769f7f42020-10-01T00:00:00Zhttps://doi.org/10.2478/enr-2020-0029https://doaj.org/toc/1336-0329Objective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive KCNJ11 variants.Stanik JurajBarak LubomirDankovcikova AdrianaValkovicova TereziaSkopkova MartinaGasperikova DanielaSciendoarticlepermanent neonatal diabetes mellituskcnj11childrenmothersdiabetes controlsulfonylureac-peptideDiseases of the endocrine glands. Clinical endocrinologyRC648-665ENEndocrine Regulations, Vol 54, Iss 4, Pp 260-265 (2020)
institution DOAJ
collection DOAJ
language EN
topic permanent neonatal diabetes mellitus
kcnj11
children
mothers
diabetes control
sulfonylurea
c-peptide
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
spellingShingle permanent neonatal diabetes mellitus
kcnj11
children
mothers
diabetes control
sulfonylurea
c-peptide
Diseases of the endocrine glands. Clinical endocrinology
RC648-665
Stanik Juraj
Barak Lubomir
Dankovcikova Adriana
Valkovicova Terezia
Skopkova Martina
Gasperikova Daniela
Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
description Objective. Mutations of the KCNJ11 gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive KCNJ11 variants.
format article
author Stanik Juraj
Barak Lubomir
Dankovcikova Adriana
Valkovicova Terezia
Skopkova Martina
Gasperikova Daniela
author_facet Stanik Juraj
Barak Lubomir
Dankovcikova Adriana
Valkovicova Terezia
Skopkova Martina
Gasperikova Daniela
author_sort Stanik Juraj
title Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
title_short Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
title_full Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
title_fullStr Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
title_full_unstemmed Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants
title_sort comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same kcnj11 variants
publisher Sciendo
publishDate 2020
url https://doaj.org/article/c0affae03f414a0bafd86c422769f7f4
work_keys_str_mv AT stanikjuraj comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
AT baraklubomir comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
AT dankovcikovaadriana comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
AT valkovicovaterezia comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
AT skopkovamartina comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
AT gasperikovadaniela comparisonofdiabetesphenotypeinchildrenandtheirmotherswithpermanentneonataldiabetesmellituscarryingthesamekcnj11variants
_version_ 1718383599020933120