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Article
Open AccessPhenotype variability and neonatal diabetes in a large family with heterozygous mutation of the glucokinase gene
Monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY) is usually characterized by a mild clinical phenotype. The clinical course of diabetes may be, however, highly variable. The authors pr...
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Article
Selected risk factors of fractures in children — own observation
Bone fractures may depend on Vitamin D Receptor Gene (VDR), bone mineral density, bone turnover markers. Patients and methods. 161 patients were recruited and underwent: skeletal densitometry (DXA) method and bon...
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Article
Open AccessThree-year comparison of subcutaneous insulin pump treatment with multi-daily injections on HbA1c, its variability and hospital burden of children with type 1 diabetes
Treatment with continuous subcutaneous insulin infusion (CSII) allows a large degree of treatment individualization and intensification in children with diabetes. The study’s aim was to evaluate the impact of ...
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Article
Open AccessLess but better: cardioprotective lipid profile of patients with GCK-MODY despite lower HDL cholesterol level
Patients with diabetes caused by single-gene mutations generally exhibit an altered course of diabetes. Those with mutations of the glucokinase gene (GCK-MODY) show good metabolic control and low risk of cardiova...
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Article
Open AccessDifferential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors
We aimed to identify microRNAs (miRNAs) under transcriptional control of the HNF1β transcription factor, and investigate whether its effect manifests in serum.
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Article
Open AccessRetinal thickness as a marker of disease progression in longitudinal observation of patients with Wolfram syndrome
Wolfram syndrome (WFS) is a recessively inherited monogenic form of diabetes coexisting with optic atrophy and neurodegenerative disorders with no currently recognized markers of disease progression. The aim o...
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Article
GlyCulator2: an update on a web application for calculation of glycemic variability indices
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Article
Open AccessKlotho and fibroblast growth factors 19 and 21 serum concentrations in children and adolescents with normal body weight and obesity and their associations with metabolic parameters
Fibroblast growth factor 19 (FGF19), fibroblast growth factor 21 (FGF21) and Klotho are regulators of energy homeostasis. However, in the pediatric population, the relationships between obesity, metabolic diso...