{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T08:39:30Z","timestamp":1793263170556,"version":"4.5.0"},"reference-count":107,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis","Orphanet Journal of Rare Diseases"],"published-print":{"date-parts":[[2012]]},"DOI":"10.1186\/1750-1172-7-11","type":"journal-article","created":{"date-parts":[[2012,1,31]],"date-time":"2012-01-31T07:14:44Z","timestamp":1327994084000},"page":"11","source":"Crossref","is-referenced-by-count":40,"title":["Endocrine manifestations related to inherited metabolic diseases in adults"],"prefix":"10.1186","volume":"7","author":[{"given":"Marie-Christine","family":"Vantyghem","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dries","family":"Dobbelaere","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karine","family":"Mention","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Wemeau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Saudubray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Douillard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"-","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2008.12.004"},{"key":"10.1186\/1750-1172-7-11-B2","doi-asserted-by":"publisher","DOI":"10.1586\/erm.10.55"},{"key":"10.1186\/1750-1172-7-11-B3","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02152"},{"key":"10.1186\/1750-1172-7-11-B4","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.50.5108"},{"key":"10.1186\/1750-1172-7-11-B5","doi-asserted-by":"publisher","DOI":"10.1002\/mds.21938"},{"key":"10.1186\/1750-1172-7-11-B7","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1263-0"},{"key":"10.1186\/1750-1172-7-11-B8","doi-asserted-by":"publisher","DOI":"10.1177\/088307380001501108"},{"key":"10.1186\/1750-1172-7-11-B9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0015687"},{"key":"10.1186\/1750-1172-7-11-B10","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-008-1073-1"},{"key":"10.1186\/1750-1172-7-11-B11","doi-asserted-by":"publisher","DOI":"10.2337\/diabetes.46.10.1567"},{"key":"10.1186\/1750-1172-7-11-B12","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0020617"},{"key":"10.1186\/1750-1172-7-11-B13","doi-asserted-by":"publisher","DOI":"10.1007\/BF00404339"},{"key":"10.1186\/1750-1172-7-11-B14","doi-asserted-by":"publisher","DOI":"10.1038\/311271a0"},{"key":"10.1186\/1750-1172-7-11-B16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2680"},{"key":"10.1186\/1750-1172-7-11-B17","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkr546"},{"key":"10.1186\/1750-1172-7-11-B18","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2011.06.106"},{"key":"10.1186\/1750-1172-7-11-B19","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10258"},{"key":"10.1186\/1750-1172-7-11-B20","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1265163"},{"key":"10.1186\/1750-1172-7-11-B21","doi-asserted-by":"publisher","DOI":"10.1016\/j.diabet.2009.01.003"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03478.x"},{"key":"10.1186\/1750-1172-7-11-B23","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-011-2207-4"},{"key":"10.1186\/1750-1172-7-11-B24","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.106534"},{"key":"10.1186\/1750-1172-7-11-B25","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.6.617"},{"key":"10.1186\/1750-1172-7-11-B26","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-5491.2000.00378.x"},{"key":"10.1186\/1750-1172-7-11-B27","doi-asserted-by":"publisher","DOI":"10.4076\/1757-1626-2-6891"},{"key":"10.1186\/1750-1172-7-11-B28","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.165.6.675"},{"key":"10.1186\/1750-1172-7-11-B31","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2010.210"},{"key":"10.1186\/1750-1172-7-11-B32","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050926"},{"key":"10.1186\/1750-1172-7-11-B35","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9203-6"},{"key":"10.1186\/1750-1172-7-11-B36","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.01.062"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2009.09.001"},{"key":"10.1186\/1750-1172-7-11-B38","doi-asserted-by":"publisher","DOI":"10.1530\/eje.1.02305"},{"key":"10.1186\/1750-1172-7-11-B39","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2010.082"},{"key":"10.1186\/1750-1172-7-11-B40","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1313-5"},{"key":"10.1186\/1750-1172-7-11-B41","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.171"},{"key":"10.1186\/1750-1172-7-11-B42","doi-asserted-by":"publisher","DOI":"10.1210\/er.2009-0041"},{"key":"10.1186\/1750-1172-7-11-B43","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2000.10.871"},{"key":"10.1186\/1750-1172-7-11-B44","doi-asserted-by":"publisher","DOI":"10.1055\/s-0030-1262826"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1992.tb02289.x"},{"key":"10.1186\/1750-1172-7-11-B46","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390612"},{"key":"10.1186\/1750-1172-7-11-B47","doi-asserted-by":"publisher","DOI":"10.1007\/BF02258374"},{"key":"10.1186\/1750-1172-7-11-B50","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0003-3"},{"key":"10.1186\/1750-1172-7-11-B51","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2006-0858"},{"key":"10.1186\/1750-1172-7-11-B53","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2009.435"},{"key":"10.1186\/1750-1172-7-11-B54","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(00)70112-0"},{"key":"10.1186\/1750-1172-7-11-B57","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2007.0228"},{"key":"10.1186\/1750-1172-7-11-B58","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.66"},{"key":"10.1186\/1750-1172-7-11-B59","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-11-0369"},{"key":"10.1186\/1750-1172-7-11-B60","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-10-0679"},{"key":"10.1186\/1750-1172-7-11-B61","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2007-2719"},{"key":"10.1186\/1750-1172-7-11-B62","doi-asserted-by":"publisher","DOI":"10.1023\/A:1021883605280"},{"key":"10.1186\/1750-1172-7-11-B63","doi-asserted-by":"publisher","DOI":"10.1172\/JCI43653"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1016\/j.ando.2011.03.011"},{"key":"10.1186\/1750-1172-7-11-B65","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2008.0397"},{"key":"10.1186\/1750-1172-7-11-B66","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2007.0140"},{"key":"10.1186\/1750-1172-7-11-B67","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2008.0091"},{"key":"10.1186\/1750-1172-7-11-B68","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2004-0980"},{"key":"10.1186\/1750-1172-7-11-B69","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-008-0701-4"},{"key":"10.1186\/1750-1172-7-11-B70","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2005.06.024"},{"key":"10.1186\/1750-1172-7-11-B71","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2008.02.129"},{"key":"10.1186\/1750-1172-7-11-B72","doi-asserted-by":"publisher","DOI":"10.1196\/annals.1386.044"},{"key":"10.1186\/1750-1172-7-11-B74","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmp038"},{"key":"10.1186\/1750-1172-7-11-B75","doi-asserted-by":"publisher","DOI":"10.1097\/OGX.0b013e31816ff6c5"},{"key":"10.1186\/1750-1172-7-11-B76","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dml031"},{"key":"10.1186\/1750-1172-7-11-B77","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9180-9"},{"key":"10.1186\/1750-1172-7-11-B78","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.07.005"},{"key":"10.1186\/1750-1172-7-11-B80","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.05.016"},{"key":"10.1186\/1750-1172-7-11-B81","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-011-1401-1"},{"key":"10.1186\/1750-1172-7-11-B82","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2605.1997.00066.x"},{"key":"10.1186\/1750-1172-7-11-B83","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/13.9.2474"},{"key":"10.1186\/1750-1172-7-11-B84","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22363"},{"key":"10.1186\/1750-1172-7-11-B85","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21388"},{"key":"10.1186\/1750-1172-7-11-B86","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-8"},{"key":"10.1186\/1750-1172-7-11-B87","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.007"},{"key":"10.1186\/1750-1172-7-11-B88","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1103471108"},{"key":"10.1186\/1750-1172-7-11-B89","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9299-3"},{"key":"10.1186\/1750-1172-7-11-B90","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9328-2"},{"key":"10.1186\/1750-1172-7-11-B92","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2010.01187.x"},{"key":"10.1186\/1750-1172-7-11-B94","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1995.tb13720.x"},{"key":"10.1186\/1750-1172-7-11-B95","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30143"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2006.04.008"},{"key":"10.1186\/1750-1172-7-11-B97","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20804"},{"key":"10.1186\/1750-1172-7-11-B98","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.01.016"},{"key":"10.1186\/1750-1172-7-11-B99","doi-asserted-by":"publisher","DOI":"10.1021\/jm101401a"},{"key":"10.1186\/1750-1172-7-11-B100","doi-asserted-by":"publisher","DOI":"10.1007\/BF01956154"},{"key":"10.1186\/1750-1172-7-11-B105","doi-asserted-by":"publisher","DOI":"10.1111\/j.1468-1331.2007.01720.x"},{"key":"10.1186\/1750-1172-7-11-B106","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2007.9"},{"key":"10.1186\/1750-1172-7-11-B108","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.125401"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.1995.tb02686.x"},{"key":"10.1186\/1750-1172-7-11-B110","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444957"},{"key":"10.1186\/1750-1172-7-11-B111","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005347826664"},{"key":"10.1186\/1750-1172-7-11-B112","doi-asserted-by":"publisher","DOI":"10.1210\/jc.82.9.3063"},{"key":"10.1186\/1750-1172-7-11-B113","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"10.1186\/1750-1172-7-11-B114","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050902"},{"key":"10.1186\/1750-1172-7-11-B115","doi-asserted-by":"publisher","DOI":"10.1177\/0883073809343313"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1996.00856.x"},{"key":"10.1186\/1750-1172-7-11-B118","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(95)00020-8"},{"key":"10.1186\/1750-1172-7-11-B119","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.1.125"},{"key":"10.1186\/1750-1172-7-11-B123","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70111-2"},{"key":"10.1186\/1750-1172-7-11-B124","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2009.22.12.1175"},{"key":"10.1186\/1750-1172-7-11-B125","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.49.3508"},{"key":"10.1186\/1750-1172-7-11-B126","doi-asserted-by":"publisher","DOI":"10.1136\/pgmj.71.835.297"},{"key":"10.1186\/1750-1172-7-11-B127","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2000.13.3.325"},{"key":"10.1186\/1750-1172-7-11-B128","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0255-4"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1797.2006.00443.x"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2007.02721.x"},{"key":"10.1186\/1750-1172-7-11-B132","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1453-x"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","deposited":{"date-parts":[[2016,5,16]],"date-time":"2016-05-16T17:12:28Z","timestamp":1463418748000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-7-11"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":107,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012]]}},"alternative-id":["1750-1172-7-11"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-7-11","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"print"}],"subject":[],"published":{"date-parts":[[2012]]}}}