{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:35:48Z","timestamp":1790073348977,"version":"4.0.1"},"reference-count":35,"publisher":"Walter de Gruyter GmbH","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,1]]},"DOI":"10.1515\/jpem.2006.19.11.1343","type":"journal-article","created":{"date-parts":[[2011,4,15]],"date-time":"2011-04-15T12:18:53Z","timestamp":1302869933000},"source":"Crossref","is-referenced-by-count":51,"title":["Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population"],"prefix":"10.1515","volume":"19","author":[{"given":"M.","family":"Dominguez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Crushell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Ilmarinen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"McGovern","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fleming","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.D.","family":"Irvine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Brosnahan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Ulmanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Murphy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Costigan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"p_1","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1038\/ng0994-83","volume":"8","author":"Aaltonen J","year":"1994","journal-title":"Nat Genet"},{"key":"p_2","doi-asserted-by":"crossref","first-page":"608","DOI":"10.1006\/bbrc.1996.1218","volume":"225","author":"Nagamine K","year":"1996","journal-title":"Biochem Biophys Res Commun"},{"key":"p_3","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1399-0004.1985.tb02037.x","volume":"27","author":"Ahonen P","year":"1985","journal-title":"Clin Genet"},{"key":"p_4","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1007\/s00109-001-0306-2","volume":"80","author":"Vogel","year":"2002","journal-title":"J Mol Med"},{"key":"p_7","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1007\/s004390050846","volume":"103","author":"Rosatelli M C","year":"1998","journal-title":"Hum Genet"},{"key":"p_8","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1136\/jmg.29.11.824","volume":"29","author":"Zlotogora J","year":"1992","journal-title":"J Med Genet"},{"key":"p_9","doi-asserted-by":"crossref","first-page":"684","DOI":"10.1016\/0888-7543(90)90255-S","volume":"8","author":"Syv\u00e4nen AC","year":"1990","journal-title":"Genomics"},{"key":"p_10","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1086\/302765","volume":"66","author":"Bj\u00f6rses","year":"2000","journal-title":"Am J Hum Genet"},{"key":"p_11","first-page":"3","volume":"90","author":"O' Sullivan DJ","year":"1997","journal-title":"Irish Med J"},{"key":"p_12","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/s004390050891","volume":"103","author":"Wang CY","year":"1998","journal-title":"Hum Genet"},{"key":"p_13","doi-asserted-by":"crossref","first-page":"19784","DOI":"10.1074\/jbc.M210437200","volume":"278","author":"Murum\u00e4gi","year":"2003","journal-title":"J Biol Chem"},{"key":"p_15","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.1210\/jc.83.4.1049","volume":"83","author":"Betterle C","year":"1998","journal-title":"J Clin Endocrinol Metab"},{"key":"p_16","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1002\/humu.1176","volume":"18","author":"Heino M","year":"2001","journal-title":"Hum Mutat"},{"key":"p_17","doi-asserted-by":"crossref","first-page":"2568","DOI":"10.1210\/jc.87.6.2568","volume":"87","author":"Halonen M","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"p_18","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1196\/annals.1288.073","volume":"1005","author":"Park Y","year":"2003","journal-title":"Ann NY Acad Sei"},{"key":"p_20","first-page":"399","volume":"17","author":"Consortium TF-GA","year":"1997","journal-title":"Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy. Nat Genet"},{"key":"p_21","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1038\/ng1297-393","volume":"17","author":"Nagamine K","year":"1997","journal-title":"Nat Genet"},{"key":"p_22","doi-asserted-by":"crossref","first-page":"3146","DOI":"10.1210\/jc.2002-021495","volume":"88","author":"Buzi F","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"p_23","doi-asserted-by":"crossref","first-page":"4576","DOI":"10.1210\/jc.2003-030089","volume":"88","author":"Harris M","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"p_24","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1111\/j.1365-2249.2004.02384.x","volume":"135","author":"Peterson P","year":"2004","journal-title":"Clin Exp Immunol"},{"key":"p_25","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1002\/humu.9309","volume":"25","author":"Meloni A","year":"2005","journal-title":"Hum Mutat"},{"key":"p_26","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1515\/JPEM.2004.17.6.917","volume":"17","author":"Sato U","year":"2004","journal-title":"J Pediatr Endocrinol Metab"},{"key":"p_27","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1210\/me.12.8.1112","volume":"12","author":"Scott HS","year":"1998","journal-title":"Mol Endocrinol"},{"key":"p_28","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1002\/humu.1178","volume":"18","author":"Cihakova D","year":"2001","journal-title":"Hum Mutat"},{"key":"p_29","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<69::AID-HUMU8>3.0.CO;2-6","volume":"13","author":"Heino M","year":"1999","journal-title":"Hum Mutat"},{"key":"p_30","doi-asserted-by":"crossref","first-page":"1675","DOI":"10.1086\/302145","volume":"63","author":"Pearce SH","year":"1998","journal-title":"Am J Hum Genet"},{"key":"p_31","doi-asserted-by":"crossref","first-page":"16802","DOI":"10.1074\/jbc.M908944199","volume":"275","author":"Pitkanen J","year":"2000","journal-title":"J Biol Chem"},{"key":"p_32","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1002\/humu.20003","volume":"23","author":"Halonen M","year":"2004","journal-title":"Hum Mutat"},{"key":"p_33","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1507\/endocrj.49.625","volume":"49","author":"Sato K","year":"2002","journal-title":"Endocr J"},{"key":"p_34","doi-asserted-by":"crossref","first-page":"4602","DOI":"10.1210\/jc.2003-030700","volume":"88","author":"Gylling M","year":"2003","journal-title":"J Clin Endocrinol Metab"},{"key":"p_36","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1515\/JPEM.2003.16.8.1101","volume":"16","author":"Ni Chroinin M","year":"2003","journal-title":"J Pediatr Endocrinol Metab"},{"key":"p_37","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1034\/j.1600-0420.2000.078005532.x","volume":"78","author":"Merenmies L","year":"2000","journal-title":"Acta Ophthalmol Scand"},{"key":"p_38","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1034\/j.1600-0420.2001.079002204.x","volume":"79","author":"Tarkkanen A","year":"2001","journal-title":"Acta Ophthalmol Scand"},{"key":"p_39","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1515\/JPEM.2005.18.2.155","volume":"18","author":"Perniola R","year":"2005","journal-title":"J Pediatr Endocrinol Metab"},{"key":"p_40","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1111\/j.1365-2133.2006.07166.x","volume":"154","author":"Collins SM","year":"2006","journal-title":"Br J Dermatol"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/JPEM.2006.19.11.1343\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,22]],"date-time":"2021-04-22T02:06:07Z","timestamp":1619057167000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/JPEM.2006.19.11.1343\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1]]},"references-count":35,"journal-issue":{"issue":"11"},"URL":"https:\/\/doi.org\/10.1515\/jpem.2006.19.11.1343","relation":{},"ISSN":["2191-0251","0334-018X"],"issn-type":[{"value":"2191-0251","type":"electronic"},{"value":"0334-018X","type":"print"}],"subject":[],"published":{"date-parts":[[2006,1]]}}}