{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T16:32:35Z","timestamp":1793291555501,"version":"4.5.0"},"reference-count":15,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2020,2,6]],"date-time":"2020-02-06T00:00:00Z","timestamp":1580947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["105636\/Z\/14\/Z"],"award-info":[{"award-number":["105636\/Z\/14\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0228417","type":"journal-article","created":{"date-parts":[[2020,2,6]],"date-time":"2020-02-06T13:33:15Z","timestamp":1580995995000},"page":"e0228417","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":62,"title":["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"],"prefix":"10.1371","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3559-6479","authenticated-orcid":true,"given":"Daphne","family":"Yau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Laver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Dastamani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Senthil","family":"Senniappan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayne A. L.","family":"Houghton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2316-3334","authenticated-orcid":true,"given":"Guftar","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim","family":"Cheetham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Talat","family":"Mushtaq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritika R.","family":"Kapoor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tabitha","family":"Randell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sian","family":"Ellard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4402-8297","authenticated-orcid":true,"given":"Pratik","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Indraneel","family":"Banerjee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Flanagan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2020,2,6]]},"reference":[{"issue":"2","key":"pone.0228417.ref001","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jpeds.2005.10.002","article-title":"Clinical features and insulin regulation in infants with a syndrome of prolonged neonatal hyperinsulinism","volume":"148","author":"PS Hoe FM Thornton","year":"2006","journal-title":"J Pediatr"},{"issue":"5","key":"pone.0228417.ref002","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1530\/EJE-10-1136","article-title":"The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism","volume":"164","author":"I Banerjee","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"pone.0228417.ref003","doi-asserted-by":"crossref","first-page":"F356","DOI":"10.1136\/archdischild-2012-302880","article-title":"Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age","volume":"98","author":"VB Arya","year":"2013","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"issue":"2","key":"pone.0228417.ref004","doi-asserted-by":"crossref","first-page":"E355","DOI":"10.1210\/jc.2012-2169","article-title":"Genotype and Phenotype Correlations in 417 Children With Congenital Hyperinsulinism","volume":"98","author":"KE Snider","year":"2013","journal-title":"Clin Endocrinol Metab"},{"issue":"12","key":"pone.0228417.ref005","doi-asserted-by":"crossref","first-page":"E1540","DOI":"10.1210\/jc.2015-2763","article-title":"High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism","volume":"100","author":"K Rozenkova","year":"2015","journal-title":"J Clin Endocrinol Metab"},{"issue":"2","key":"pone.0228417.ref006","doi-asserted-by":"crossref","first-page":"F79","DOI":"10.1136\/fn.82.2.F79","article-title":"2000 Genetics of neonatal hyperinsulinism","volume":"82","author":"B Glaser","year":"2000","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"pone.0228417.ref007","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1097\/00008480-199008000-00024","article-title":"Recent advances in hyperinsulinism and the pathogenesis of diabetes mellitus","volume":"2","author":"GJ Bruining","year":"1990","journal-title":"Curr Opin Pediatr"},{"issue":"2","key":"pone.0228417.ref008","doi-asserted-by":"crossref","first-page":"408","DOI":"10.2337\/diabetes.48.2.408","article-title":"A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland","volume":"48","author":"T Otonkoski","year":"1999","journal-title":"Diabetes"},{"key":"pone.0228417.ref009","first-page":"563","article-title":"Clinical characteristics of congenital hyperinsulinemic hypoglycemia in infant: a nationwide epidemiological survey in Japan","volume":"115","author":"R Kawakita","year":"2011","journal-title":"Nihon Shonika Gakkai Zasshi"},{"issue":"3","key":"pone.0228417.ref010","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1210\/jc.2015-3651","article-title":"Perspective on the Genetics and Diagnosis of Congenital Hyperinsulinism Disorders","volume":"101","author":"CA Stanley","year":"2016","journal-title":"J Clin Endocrinol Metab"},{"issue":"1","key":"pone.0228417.ref011","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1111\/dme.13823","article-title":"Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia","volume":"36","author":"I Banerjee","year":"2019","journal-title":"Diabetic Medicine"},{"issue":"3","key":"pone.0228417.ref012","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1177\/000992288802700307","article-title":"Persistent Neonatal Hyperinsulinsim","volume":"27","author":"PM Matthew","year":"1998","journal-title":"Clin Pediatr"},{"issue":"1","key":"pone.0228417.ref013","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1080\/02724939992644","article-title":"Persistent hyperinsulinaemic hypoglycaemia of infancy (nesidioblastosis): a report from Kuwait","volume":"19","author":"DG Ramadan","year":"1999","journal-title":"Ann Trop Paediatr"},{"issue":"7616","key":"pone.0228417.ref014","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"M Lek","year":"2016","journal-title":"Nature"},{"issue":"5","key":"pone.0228417.ref015","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"S Richards","year":"2015","journal-title":"Genet Med"}],"container-title":["PLOS ONE"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0228417","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,6]],"date-time":"2020-02-06T13:33:26Z","timestamp":1580996006000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0228417"}},"subtitle":[],"editor":[{"given":"Klaus","family":"Brusgaard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2020,2,6]]},"references-count":15,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,2,6]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0228417","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,2,6]]}}}