Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

OBJECTIVE: Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known. METHODS: From a pooled cohort of 201 non-syndromic children with CHI from three European referral centres (Denmark, n=141; Norway, n=2...

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Detalhes bibliográficos
Principais autores: Christesen, H, Tribble, N, Molven, A, Siddiqui, J, Sandal, T, Brusgaard, K, Ellard, S, Njølstad, P, Alm, J, Brock Jacobsen, B, Hussain, K, Gloyn, A
Formato: Journal article
Idioma:English
Publicado em: 2008