Using referral rates for genetic testing to determine the incidence of a rare disease: The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
Author:
Funder
Wellcome Trust
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference15 articles.
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2. The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism;I Banerjee;Eur J Endocrinol,2011
3. Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age;VB Arya;Arch Dis Child Fetal Neonatal Ed,2013
4. Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism;KE Snider;Clin Endocrinol Metab,2013
5. High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism;K Rozenkova;J Clin Endocrinol Metab,2015
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2. Dasiglucagon for the Treatment of Congenital Hyperinsulinism: A Randomized Phase 3 Trial in Infants and Children;The Journal of Clinical Endocrinology & Metabolism;2023-11-01
3. Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus;Frontiers in Endocrinology;2023-10-30
4. Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience;The Journal of Maternal-Fetal & Neonatal Medicine;2023-10-20
5. International Guidelines for the Diagnosis and Management of Hyperinsulinism;Hormone Research in Paediatrics;2023-07-14
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