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-Reference-Cited by-同舟云学术

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

Published:2020-02-06 Issue:2 Volume:15 Page:e0228417
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Yau Daphne^ORCID,Laver Thomas W.,Dastamani Antonia,Senniappan Senthil,Houghton Jayne A. L.,Shaikh Guftar^ORCID,Cheetham Tim,Mushtaq Talat,Kapoor Ritika R.,Randell Tabitha,Ellard Sian,Shah Pratik^ORCID,Banerjee Indraneel,Flanagan Sarah E.

Funder

Wellcome Trust

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference15 articles.

1. Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism;PS Hoe FM Thornton;J Pediatr,2006

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

Cited by 33 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Etiology of the Neonatal Hypoglycemias;Advances in Pediatrics;2024-08

2. Genotype-histotype-phenotype correlations in hyperinsulinemic hypoglycemia;HISTOL HISTOPATHOL;2024

3. The Birth Prevalence of Congenital Hyperinsulinism: A Narrative Review of the Epidemiology of a Rare Disease;Hormone Research in Paediatrics;2024-06-17

4. Approach to the Neonate With Hypoglycemia;The Journal of Clinical Endocrinology & Metabolism;2024-04-17

5. First Accuracy and User-Experience Evaluation of New Continuous Glucose Monitoring System for Hypoglycemia Due to Hyperinsulinism;Journal of Diabetes Science and Technology;2024-04-14