January 24, 2013Open Access

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism

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Abstract

A genetic diagnosis was made for 45.3% of patients in this large series. Mutations in the ABCC8 gene were the commonest identifiable cause. The vast majority of patients with diazoxide-responsive CHI (77.6%) had no identifiable mutations, suggesting other genetic and/or environmental mechanisms.

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Kapoor et al. (Thu,) studied this question.

synapsesocial.com/papers/69d91d649a6164e50fa3c13c https://doi.org/https://doi.org/10.1530/eje-12-0673

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4Functional Analysis of a Mutant Sulfonylurea Receptor, SUR1-R1420C, That Is Responsible for Persistent Hyperinsulinemic Hypoglycemia of Infancy2000 · 43 citations
5Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 12000 · 277 citations

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