Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same KCNJ11 variants / Juraj Stanik ... [et al.]. -- ilustr., grafy. -- Bibliogr. odkazy - Res. angl.

In Endocrine regulations. -- Bratislava : Institute of Experimental Endocrinology, 2020. -- s. 231-283. -- ISSN 1210-0668. -- Vol. 54, no. 4 (2020), s. [260]-265

1. diabetes mellitus 2. C-peptid - analýza 3. zlúčeniny sulfonylureové - použitie terapeutické 4. hemoglobín glykovaný - analýza 5. dospelý 6. novorodenec

I. Staník, Juraj
II. Barák, Ľubomír
III. Dankovčíková, Adriana
IV. Valkovičová, Terézia
V. Škopková, Martina
VI. Gašperíková, Daniela
VII. Endocrine regulations. -- Vol. 54, no. 4 (2020), s. [260]-265

diabetes mellitus permanentný neonatálny - KCNJ11 (potassium voltage-gated channel subfamily J member 11) gene - mutácia génu KCNJ11 - variant c.602G>A (p.R201H) - mutácia génu KCNJ11 - variant c.136C>T (p.H46Y) - glibenklamid