Article
Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
The Journal of clinical endocrinology and metabolism - 1 Oct 2002
Huopio H, Jääskeläinen J, Komulainen J, Miettinen R, Kärkkäinen P, Laakso M, Tapanainen P, Voutilainen R, Otonkoski T
Abstract excerpt
Mutations in genes encoding the two subunits of the beta-cell ATP-sensitive potassium channel (K(ATP)) channel (SUR1 and Kir6.2) are the major cause of congenital hyperinsulinism (CHI). In this study, the K(ATP) channel genes were screened in a population-based study that included all verified Finnish CHI patients (n = 43) in a 27-yr period. Seven different mutations were identified, which accounted for 60% of...
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