{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:09:41Z","timestamp":1787022581729,"version":"build-2736575974"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"5-6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2015,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital central hypoventilation syndrome (CCHS) is a rare neurocristopathy with severe central hypoventilation. CCHS results from a mutation in the paired-like homeobox 2B gene (<\/jats:p>","DOI":"10.1515\/jpem-2014-0174","type":"journal-article","created":{"date-parts":[[2015,1,12]],"date-time":"2015-01-12T03:21:48Z","timestamp":1421032908000},"source":"Crossref","is-referenced-by-count":1,"title":["Hyperthyroidism hidden by congenital central hypoventilation syndrome"],"prefix":"10.1515","volume":"28","author":[{"given":"Danya A.","family":"Fox","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debra E.","family":"Weese-Mayer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David F.","family":"Wensley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura L.","family":"Stewart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref161","first-page":"181","article-title":"DE EM TG DA ATS Congenital Central Hypoventilation Syndrome Subcommittee An official ATS clinical policy statement Congenital central hypoventilation syndrome genetic basis diagnosis and management","author":"Weese","year":"2010","journal-title":"Am Crit Care Med"},{"key":"ref271","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1249","article-title":"Case \/ control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome","author":"Weese","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref11","first-page":"181","article-title":"DE EM TG DA ATS Congenital Central Hypoventilation Syndrome Subcommittee An official ATS clinical policy statement Congenital central hypoventilation syndrome genetic basis diagnosis and management","author":"Weese","year":"2010","journal-title":"Am Crit Care Med"},{"key":"ref71","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1111\/j.1651-2227.2001.tb02445.x","article-title":"in syndromal disorders","author":"Meissner","year":"2001","journal-title":"Acta Paediatr"},{"key":"ref21","first-page":"445","article-title":"Congenital Central Hypoventilation Syndrome mutations In editors Primer on the autonomic nervous system Academic","author":"Weese","year":"2012"},{"key":"ref111","first-page":"43","article-title":"Congenital central hypoventilation syndrome genotype determines risk for sudden death","author":"Gronli","year":"2008"},{"key":"ref241","first-page":"127","article-title":"The french congenital central hypoventilation syndrome registry : general data phenotype genotype","author":"Trang","year":"2005","journal-title":"Chest"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/elps.200600383","article-title":"Unequal crossover recombination population screening for gene polyalanine polymorphism using","volume":"28","author":"Hung","year":"2007","journal-title":"Electrophoresis"},{"key":"ref91","first-page":"127","article-title":"The french congenital central hypoventilation syndrome registry : general data phenotype genotype","author":"Trang","year":"2005","journal-title":"Chest"},{"key":"ref231","first-page":"112","article-title":"congenital central hypoventilation syndrome the next generation","author":"Silvestri","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1130","article-title":"de expansion and frameshift mutations of the paired - like homeobox gene in congenital central hypoventilation syndrome","author":"Amiel","year":"2003","journal-title":"Nat Genet"},{"key":"ref281","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0022-3476(77)80843-3","article-title":"Antithyroid drug therapy for toxic diffuse goiter disease thirty years experience in children and adolescents","volume":"20","author":"Barnes","year":"1977","journal-title":"J Pediatr"},{"key":"ref181","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/ng1130","article-title":"de expansion and frameshift mutations of the paired - like homeobox gene in congenital central hypoventilation syndrome","author":"Amiel","year":"2003","journal-title":"Nat Genet"},{"key":"ref151","first-page":"49","article-title":"Failure of automatic control of ventilation curse Report of an infant born with this syndrome and review of the literature","author":"Mellins","year":"1970","journal-title":"Medicine"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/S0022-3476(77)80843-3","article-title":"Antithyroid drug therapy for toxic diffuse goiter disease thirty years experience in children and adolescents","volume":"20","author":"Barnes","year":"1977","journal-title":"J Pediatr"},{"key":"ref191","first-page":"123","article-title":"Idiopathic congenital central hypoventilation syndrome : analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in","author":"Weese","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref121","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/ajmg.1249","article-title":"Case \/ control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome","author":"Weese","year":"2001","journal-title":"Am J Med Genet"},{"key":"ref171","first-page":"445","article-title":"Congenital Central Hypoventilation Syndrome mutations In editors Primer on the autonomic nervous system Academic","author":"Weese","year":"2012"},{"key":"ref211","first-page":"53","article-title":"Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant","author":"Hennewig","year":"2008","journal-title":"J Hum Genet"},{"key":"ref101","first-page":"120","article-title":"AS Congenital central hypoventilation syndrome diagnosis management and long - term outcome in thirty - two children","author":"Weese","year":"1992","journal-title":"J Pediatr"},{"key":"ref41","first-page":"123","article-title":"Idiopathic congenital central hypoventilation syndrome : analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in","author":"Weese","year":"2003","journal-title":"Am J Med Genet"},{"key":"ref251","first-page":"120","article-title":"AS Congenital central hypoventilation syndrome diagnosis management and long - term outcome in thirty - two children","author":"Weese","year":"1992","journal-title":"J Pediatr"},{"key":"ref81","first-page":"112","article-title":"congenital central hypoventilation syndrome the next generation","author":"Silvestri","year":"2002","journal-title":"Am J Med Genet"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"3817","DOI":"10.1210\/jc.2008-0842","article-title":"Graves Disease Study Group Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment","volume":"26","author":"Kaguelidou","year":"2008","journal-title":"Childhood J Clin Endocrinol Metab"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"3817","DOI":"10.1210\/jc.2008-0842","article-title":"Graves Disease Study Group Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment","volume":"26","author":"Kaguelidou","year":"2008","journal-title":"Childhood J Clin Endocrinol Metab"},{"key":"ref261","first-page":"43","article-title":"Congenital central hypoventilation syndrome genotype determines risk for sudden death","author":"Gronli","year":"2008"},{"key":"ref221","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1111\/j.1651-2227.2001.tb02445.x","article-title":"in syndromal disorders","author":"Meissner","year":"2001","journal-title":"Acta Paediatr"},{"key":"ref01","first-page":"49","article-title":"Failure of automatic control of ventilation curse Report of an infant born with this syndrome and review of the literature","author":"Mellins","year":"1970","journal-title":"Medicine"},{"key":"ref61","first-page":"53","article-title":"Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant","author":"Hennewig","year":"2008","journal-title":"J Hum Genet"},{"key":"ref51","doi-asserted-by":"crossref","first-page":"894","DOI":"10.1002\/elps.200600383","article-title":"Unequal crossover recombination population screening for gene polyalanine polymorphism using","volume":"28","author":"Hung","year":"2007","journal-title":"Electrophoresis"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0174\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T21:37:36Z","timestamp":1619041056000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2014-0174\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,1]]},"references-count":30,"journal-issue":{"issue":"5-6"},"URL":"https:\/\/doi.org\/10.1515\/jpem-2014-0174","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1,1]]}}}