{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T18:21:27Z","timestamp":1789928487496,"version":"4.0.1"},"reference-count":31,"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":[[2013]]},"DOI":"10.1186\/1750-1172-8-189","type":"journal-article","created":{"date-parts":[[2013,12,6]],"date-time":"2013-12-06T10:01:36Z","timestamp":1386324096000},"page":"189","source":"Crossref","is-referenced-by-count":63,"title":["Natural history of Sanfilippo syndrome in Spain"],"prefix":"10.1186","volume":"8","author":[{"given":"Ver\u00f3nica","family":"Delgadillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria del","family":"O\u2019Callaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Gort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Coll","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mercedes","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"10.1186\/1750-1172-8-189-B3","doi-asserted-by":"publisher","DOI":"10.1136\/adc.69.3.403"},{"key":"10.1186\/1750-1172-8-189-B4","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-008-0838-5"},{"key":"10.1186\/1750-1172-8-189-B5","doi-asserted-by":"publisher","DOI":"10.1111\/apa.12169"},{"key":"10.1186\/1750-1172-8-189-B6","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-43"},{"key":"10.1186\/1750-1172-8-189-B7","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9199-y"},{"key":"10.1186\/1750-1172-8-189-B9","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22092"},{"key":"10.1186\/1750-1172-8-189-B10","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-0282"},{"key":"10.1186\/1750-1172-8-189-B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.011"},{"key":"10.1186\/1750-1172-8-189-B12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1998.tb01977.x"},{"key":"10.1186\/1750-1172-8-189-B13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.3.192"},{"key":"10.1186\/1750-1172-8-189-B14","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.11.1629"},{"key":"10.1186\/1750-1172-8-189-B16","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00053.x"},{"key":"10.1186\/1750-1172-8-189-B17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01525.x"},{"key":"10.1186\/1750-1172-8-189-B19","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2010.01800.x"},{"key":"10.1186\/1750-1172-8-189-B21","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.9.1573"},{"key":"10.1186\/1750-1172-8-189-B22","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:6<479::AID-HUMU10>3.0.CO;2-X"},{"key":"10.1186\/1750-1172-8-189-B23","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)12:4<274::AID-HUMU9>3.0.CO;2-F"},{"key":"10.1186\/1750-1172-8-189-B24","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1248"},{"key":"10.1186\/1750-1172-8-189-B25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.001"},{"key":"10.1186\/1750-1172-8-189-B26","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.9.704"},{"key":"10.1186\/1750-1172-8-189-B27","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0093-y"},{"key":"10.1186\/1750-1172-8-189-B30","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005627311402"},{"key":"10.1186\/1750-1172-8-189-B31","doi-asserted-by":"publisher","DOI":"10.1086\/301685"},{"key":"10.1186\/1750-1172-8-189-B32","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"10.1186\/1750-1172-8-189-B36","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201044"},{"key":"10.1186\/1750-1172-8-189-B37","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200242"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-72"},{"key":"10.1186\/1750-1172-8-189-B40","doi-asserted-by":"publisher","DOI":"10.1136\/adc.73.1.77"},{"key":"10.1186\/1750-1172-8-189-B43","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0b013e31821f5ee9"},{"key":"10.1186\/1750-1172-8-189-B44","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20986"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610304.x"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","deposited":{"date-parts":[[2016,5,16]],"date-time":"2016-05-16T17:13:49Z","timestamp":1463418829000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":31,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013]]}},"alternative-id":["1750-1172-8-189"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-189","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"print"}],"subject":[],"published":{"date-parts":[[2013]]}}}