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Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-84758-w
Abstract: The potentially fatal cardiovascular effects of hypoglycaemia are not well understood and large animal models of the counter-regulatory responses and cardiovascular consequences of insulin-induced hypoglycaemia are needed to understand the mechanisms in humans. The aim…
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Keywords:
insulin;
counter regulatory;
hypoglycaemia;
effects hypoglycaemia ... See more keywords
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Published in 2019 at "Clinical Endocrinology"
DOI: 10.1111/cen.13951
Abstract: 16p11.2 microdeletion syndrome is a recognisable chromosomal anomaly caused by microdeletions in the 16p11.2 locus. It is characterized by developmental delay intellectual disability and social impairments or susceptibility to autism spectrum disorder. It also involves…
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Keywords:
new presentation;
hypoglycaemia new;
hypoglycaemia;
deletion ... See more keywords
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Published in 2022 at "European journal of endocrinology"
DOI: 10.1530/eje-21-0897
Abstract: Objective The phenotype mediated by HNF4A/HNF1A mutations is variable and includes diazoxide-responsive hyperinsulinaemic hypoglycaemia (HH) and maturity-onset diabetes of the young (MODY). Design We characterised an international multi-centre paediatric cohort of patients with HNF4A or…
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Keywords:
hnf4a hnf1a;
clinical genetic;
hnf1a mutations;
paediatric cohort ... See more keywords