Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase

OBJECTIVE: Genetic activation of the insulin signal-transducing kinase AKT2 causes syndromic hypoketotic hypoglycaemia without elevated insulin. Mosaic activating mutations in class 1A phospatidylinositol-3-kinase (PI3K), upstream from AKT2 in insulin signalling, are known to cause segmental overgro...

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Detalhes bibliográficos
Publicado no:Eur J Endocrinol
Main Authors: Leiter, Sarah M, Parker, Victoria E R, Welters, Alena, Knox, Rachel, Rocha, Nuno, Clark, Graeme, Payne, Felicity, Lotta, Luca, Harris, Julie, Guerrero-Fernández, Julio, González-Casado, Isabel, García-Miñaur, Sixto, Gordo, Gema, Wareham, Nick, Martínez-Glez, Víctor, Allison, Michael, O’Rahilly, Stephen, Barroso, Inês, Meissner, Thomas, Davies, Susan, Hussain, Khalid, Temple, Karen, Barreda-Bonis, Ana-Coral, Kummer, Sebastian, Semple, Robert K
Formato: Artigo
Idioma:Inglês
Publicado em: Bioscientifica Ltd 2017
Assuntos:
Clinical Study
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5488397/
https://ncbi.nlm.nih.gov/pubmed/28566443
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-17-0132
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