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Constitutive Activation of AKT2 in Humans Leads to Hypoglycemia Without Fatty Liver or Metabolic Dyslipidemia

CONTEXT: The activating p.Glu17Lys mutation in AKT2, a kinase mediating many of insulin’s metabolic actions, causes hypoinsulinemic hypoglycemia and left-sided hemihypertrophy. The wider metabolic profile and longer-term natural history of the condition has not yet been reported. OBJECTIVE: To chara...

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Detalles Bibliográficos
Autores principales: Minic, Marina, Rocha, Nuno, Harris, Julie, Groeneveld, Matthijs P., Leiter, Sarah, Wareham, Nicholas, Sleigh, Alison, De Lonlay, Pascale, Hussain, Khalid, O’Rahilly, Stephen, Semple, Robert K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5546860/
https://www.ncbi.nlm.nih.gov/pubmed/28541532
http://dx.doi.org/10.1210/jc.2017-00768