Article
Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants.
Endocrine regulations - 24 Nov 2020
Stanik Juraj, Barak Lubomir, Dankovcikova Adriana, Valkovicova Terezia, Skopkova Martina, Gasperikova Daniela
Abstract excerpt
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.Methods. We have compared glibenclamide (sulfonylurea) dose, C-peptide, and HbA1c serum levels in...
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