{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T23:58:07Z","timestamp":1791849487786,"version":"4.3.4"},"reference-count":40,"publisher":"The Endocrine Society","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,12,1]]},"DOI":"10.1210\/jc.2015-2763","type":"journal-article","created":{"date-parts":[[2015,10,2]],"date-time":"2015-10-02T17:01:18Z","timestamp":1443805278000},"page":"E1540-E1549","source":"Crossref","is-referenced-by-count":42,"title":["High Incidence of Heterozygous<i>ABCC8<\/i>and<i>HNF1A<\/i>Mutations in Czech Patients With Congenital Hyperinsulinism"],"prefix":"10.1210","volume":"100","author":[{"given":"Klara","family":"Rozenkova","sequence":"first","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Malikova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azizun","family":"Nessa","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom"},{"name":"KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Dusatkova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lise","family":"Bj\u00f8rkhaug","sequence":"additional","affiliation":[{"name":"KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway"},{"name":"Department of Biomedicine (L.B.), University of Bergen, Bergen N-5021, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbora","family":"Obermannova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Dusatkova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitka","family":"Kytnarova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, First Faculty of Medicine (J.K.), Charles University in Prague and the General University Hospital in Prague, Prague 121 08, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingvild","family":"Aukrust","sequence":"additional","affiliation":[{"name":"KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway"},{"name":"Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laeya A.","family":"Najmi","sequence":"additional","affiliation":[{"name":"KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway"},{"name":"Center for Medical Genetics and Molecular Medicine (I.A., L.A.N.), Haukeland University Hospital, Bergen N-5021, Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanka","family":"Rypackova","sequence":"additional","affiliation":[{"name":"Center for Research of Diabetes, Metabolism and Nutrition and Second Department of Internal Medicine FNKV, Third Faculty of Medicine (B.R.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zdenek","family":"Sumnik","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Lebl","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P\u00e5l R.","family":"Nj\u00f8lstad","sequence":"additional","affiliation":[{"name":"KG Jebsen Center for Diabetes Research, Department of Clinical Science (L.B., I.A., L.A.N., P.R.N.), University of Bergen, Bergen N-5021, Norway"},{"name":"Charles University in Prague, Prague 100 00, Czech Republic; Department of Pediatrics (P.R.N.), Haukeland University Hospital, Bergen, N-5020 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Hussain","sequence":"additional","affiliation":[{"name":"Genetics and Epigenetics in Health and Disease, Genetics and Genomic Medicine Programme (A.N., K.H.), Institute of Child Health, University College London, London WC1N 1EH, United Kingdom"},{"name":"Department of Paediatric Endocrinology (K.H.), Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, United Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stepanka","family":"Pruhova","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, Second Faculty of Medicine (K.R., J.M., L.D., B.O., P.D., Z.S., J.L., S.P.), Charles University in Prague and University Hospital in Motol, Prague 150 06, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113224635500_B1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.4274\/Jcrpe.821","article-title":"Hyperinsulinaemic hypoglycaemia:genetic mechanisms, diagnosis and management","volume":"4","author":"Mohamed","year":"2012","journal-title":"J Clin Res Pediatr Endocrinol"},{"key":"key\n\t\t\t\t2019041113224635500_B2","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/1750-1172-6-63","article-title":"Congenital hyperinsulinism: Current trends in diagnosis and therapy","volume":"6","author":"Arnoux","year":"2011","journal-title":"Orphanet J Rare Dis"},{"key":"key\n\t\t\t\t2019041113224635500_B3","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":"Snider","year":"2013","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B4","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1053\/j.sempedsurg.2010.10.004","article-title":"Genetics of congenital hyperinsulinemic hypoglycemia","volume":"20","author":"Flanagan","year":"2011","journal-title":"Semin Pediatr Surg"},{"key":"key\n\t\t\t\t2019041113224635500_B5","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1172\/JCI35414","article-title":"Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations","volume":"118","author":"Pinney","year":"2008","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041113224635500_B6","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1172\/JCI9804","article-title":"Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1","volume":"106","author":"Huopio","year":"2000","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041113224635500_B7","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1002\/humu.20357","article-title":"Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young","volume":"27","author":"Ellard","year":"2006","journal-title":"Hum Mutat"},{"key":"key\n\t\t\t\t2019041113224635500_B8","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s00125-002-1010-7","article-title":"Genetic epidemiology of MODY in the Czech republic: New mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha","volume":"46","author":"Pruhova","year":"2003","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t2019041113224635500_B9","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1111\/dme.12259","article-title":"The evolving course of HNF4A hyperinsulinaemic hypoglycaemia\u2014A case series","volume":"31","author":"McGlacken-Byrne","year":"2014","journal-title":"Diabet Med"},{"key":"key\n\t\t\t\t2019041113224635500_B10","doi-asserted-by":"crossref","first-page":"E2026","DOI":"10.1210\/jc.2012-1356","article-title":"Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A","volume":"97","author":"Stanescu","year":"2012","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B11","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1515\/jpem.2011.083","article-title":"HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes","volume":"24","author":"Dus\u00e1tkov\u00e1","year":"2011","journal-title":"J Pediatr Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B12","doi-asserted-by":"crossref","first-page":"e118","DOI":"10.1371\/journal.pmed.0040118","article-title":"Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene","volume":"4","author":"Pearson","year":"2007","journal-title":"PLoS Med"},{"key":"key\n\t\t\t\t2019041113224635500_B13","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1111\/j.1399-5448.2010.00646.x","article-title":"Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: Geographically restricted distribution of two prevalent GCK mutations","volume":"11","author":"Pruhova","year":"2010","journal-title":"Pediatr Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B14","doi-asserted-by":"crossref","first-page":"20942","DOI":"10.1074\/jbc.M113.470948","article-title":"Carbamazepine as a novel small molecule corrector of trafficking-impaired ATP-sensitive potassium channels identified in congenital hyperinsulinism","volume":"288","author":"Chen","year":"2013","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113224635500_B15","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1111\/j.1365-2265.2007.02847.x","article-title":"Complex ABCC8 DNA variations in congenital hyperinsulinism: Lessons from functional studies","volume":"67","author":"Muzyamba","year":"2007","journal-title":"Clin Endocrinol"},{"key":"key\n\t\t\t\t2019041113224635500_B16","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1006\/bbrc.2000.4024","article-title":"MODY associated with two novel hepatocyte nuclear factor-1alpha loss-of-function mutations (P112L and Q466X)","volume":"279","author":"Bj\u00f8rkhaug","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"key\n\t\t\t\t2019041113224635500_B17","doi-asserted-by":"crossref","first-page":"114","DOI":"10.2337\/diabetes.49.1.114","article-title":"Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: Nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1","volume":"49","author":"Tanizawa","year":"2000","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B18","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1210\/jc.2003-030965","article-title":"Preoperative evaluation of infants with focal or diffuse congenital hyperinsulinism by intravenous acute insulin response tests and selective pancreatic arterial calcium stimulation","volume":"89","author":"Stanley","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B19","doi-asserted-by":"crossref","first-page":"4706","DOI":"10.1210\/jc.2007-1637","article-title":"Accuracy of [18F]fluorodopa positron emission tomography for diagnosing and localizing focal congenital hyperinsulinism","volume":"92","author":"Hardy","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B20","doi-asserted-by":"crossref","first-page":"5142","DOI":"10.1093\/hmg\/ddv233","article-title":"Molecular mechanisms of congenital hyperinsulinism due to autosomal dominant mutations in ABCC8","volume":"24","author":"Nessa","year":"2015","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113224635500_B21","doi-asserted-by":"crossref","first-page":"503","DOI":"10.2337\/db07-0859","article-title":"The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3","volume":"57","author":"Bellann\u00e9-Chantelot","year":"2008","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B22","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1007\/s001250051025","article-title":"Mutation screening in 18 Caucasian families suggest the existence of other MODY genes","volume":"41","author":"Ch\u00e8vre","year":"1998","journal-title":"Diabetologia"},{"key":"key\n\t\t\t\t2019041113224635500_B23","doi-asserted-by":"crossref","first-page":"528","DOI":"10.2337\/diab.46.3.528","article-title":"Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4","volume":"46","author":"Kaisaki","year":"1997","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B24","doi-asserted-by":"crossref","first-page":"1419","DOI":"10.2337\/db08-1792","article-title":"Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations","volume":"58","author":"Sayed","year":"2009","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B25","doi-asserted-by":"crossref","first-page":"1659","DOI":"10.2337\/db07-1657","article-title":"Persistent hyperinsulinemic hypoglycemia and maturity-onset diabetes of the young due to heterozygous HNF4A mutations","volume":"57","author":"Kapoor","year":"2008","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B26","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1530\/EJE-12-0673","article-title":"Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism","volume":"168","author":"Kapoor","year":"2013","journal-title":"Eur J Endocrinol"},{"key":"key\n\t\t\t\t2019041113224635500_B27","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1159\/000356905","article-title":"Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism","volume":"81","author":"Mohnike","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"key\n\t\t\t\t2019041113224635500_B28","article-title":"Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases [published online February 2, 2015]","author":"Gong","year":"2015","journal-title":"Pediatr Diabetes"},{"key":"key\n\t\t\t\t2019041113224635500_B29","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.gene.2013.03.021","article-title":"Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort","volume":"521","author":"Faletra","year":"2013","journal-title":"Gene"},{"key":"key\n\t\t\t\t2019041113224635500_B30","doi-asserted-by":"crossref","first-page":"E141","DOI":"10.1210\/jc.2010-1281","article-title":"Molecular and clinical analysis of Japanese patients with persistent congenital hyperinsulinism: Predominance of paternally inherited monoallelic mutations in the KATP channel genes","volume":"96","author":"Yorifuji","year":"2011","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B31","doi-asserted-by":"crossref","first-page":"885","DOI":"10.1530\/EJE-14-0045","article-title":"Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations","volume":"170","author":"Demirbilek","year":"2014","journal-title":"Eur J Endocrinol"},{"key":"key\n\t\t\t\t2019041113224635500_B32","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1159\/000350827","article-title":"Genetic analysis of Italian patients with congenital hyperinsulinism of infancy","volume":"79","author":"Sogno Valin","year":"2013","journal-title":"Horm Res Paediatr"},{"key":"key\n\t\t\t\t2019041113224635500_B33","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1507\/endocrj.EJ13-0398","article-title":"Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism","volume":"61","author":"Sang","year":"2014","journal-title":"Endocr J"},{"key":"key\n\t\t\t\t2019041113224635500_B34","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1159\/000356911","article-title":"Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism","volume":"81","author":"Su","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"key\n\t\t\t\t2019041113224635500_B35","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/j.1399-0004.2009.01152.x","article-title":"The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy","volume":"75","author":"Sandal","year":"2009","journal-title":"Clin Genet"},{"key":"key\n\t\t\t\t2019041113224635500_B36","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1111\/ahg.12070","article-title":"Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia","volume":"78","author":"Jahnavi","year":"2014","journal-title":"Ann Hum Genet"},{"key":"key\n\t\t\t\t2019041113224635500_B37","first-page":"A3343","article-title":"[Congenital hyperinsulinism in the north-east Netherlands. Clinical features and DNA diagnostics in 22 children]","volume":"155","author":"Verheul","year":"2011","journal-title":"Ned Tijdschr Geneeskd"},{"key":"key\n\t\t\t\t2019041113224635500_B38","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1530\/EJE-11-0160","article-title":"Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism","volume":"164","author":"Park","year":"2011","journal-title":"Eur J Endocrinol"},{"key":"key\n\t\t\t\t2019041113224635500_B39","doi-asserted-by":"crossref","first-page":"993","DOI":"10.1515\/JPEM.2002.15.7.993","article-title":"ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures","volume":"15","author":"Darendeliler","year":"2002","journal-title":"J Pediatr Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113224635500_B40","first-page":"1002","article-title":"Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia","volume":"34","author":"Al-Agha","year":"2013","journal-title":"Saudi Med J"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/100\/12\/E1540\/10421068\/jcem1540.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,31]],"date-time":"2019-08-31T05:51:13Z","timestamp":1567230673000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/100\/12\/E1540\/2536252"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,12,1]]},"references-count":40,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2015,12,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2015-2763","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,12,1]]}}}