ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0017.2-8 | Neonatal Diabetes Mellitus | ESPEYB17

2.8. Patterns of post-meal insulin secretion in individuals with sulfonylurea-treated KCNJ11 neonatal diabetes show predominance of non-KATP-channel pathways

P Bowman , TJ McDonald , BA Knight , SE Flanagan , M Leveridge , SR Spaull , BM Shields , S Hammersley , MH Shepherd , RC Andrews , KA Patel , AT Hattersley

To read the full abstract: BMJ Open Diabetes Research and Care2019; 7:e000721. PMID: 31908791Understanding of the molecular mechanisms underlying neonatal diabetes mellitus (NDM) has helped to transform the clinical management of some patients. Those with NDM due to mutations in the KCNJ11/ABCC8 genes can now be switched to oral sulphonylurea treatment and their daily insu...
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ey0018.10-13 | (1) | ESPEYB18

10.13. Type 1 diabetes can present before the age of 6 months and is characterized by autoimmunity and rapid loss of beta cells

MB Johnson , KA Patel , E De Franco , W Hagopian , M Killian , TJ McDonald , TIM Tree , C Domingo-Vila , M Hudson , S Hammersley , R; EXE-T1D Consortium Dobbs , S Ellard , SE Flanagan , AT Hattersley , RA Oram

Diabetologia. 2020;63(12):2605–2615. doi: 10.1007/s00125-020-05276-4.Diabetes diagnosed at <6 months of age is often of monogenic origin. However, 10-15% of affected infants do not have a pathogenic variant in one of the 26 known neonatal diabetes genes. In this study, 166 infants diagnosed at <6 months of age without such pathogenic variants showed all the the classic feat...
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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