Article
Congenital hyperinsulinism in Gran Canaria, Canary Isles.
Anales de pediatria - 1 Aug 2021
Nóvoa-Medina Yeray, Domínguez García Angela, Quinteiro González Sofía, García Cruz Loida María, Santana Rodríguez Alfredo
Abstract excerpt
INTRODUCTION: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated to mutations in other genes (GCK, GLUD1, HADH, HNF1A, HNF4A, SLC16A1, UCP2, HK1), and with different syndromes. MATERIALS AND METHODS: Retrospective review of patients...
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