{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:23:56Z","timestamp":1775841836391,"version":"3.50.1"},"reference-count":25,"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\/1750-1172-8-92","type":"journal-article","created":{"date-parts":[[2013,6,25]],"date-time":"2013-06-25T14:40:30Z","timestamp":1372171230000},"page":"92","source":"Crossref","is-referenced-by-count":20,"title":["Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study"],"prefix":"10.1186","volume":"8","author":[{"given":"Encarna","family":"Guill\u00e9n-Navarro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Domingo-Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Alcalde-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram\u00f3n","family":"Cancho-Candela","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Couce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrique","family":"Gal\u00e1n-G\u00f3mez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga","family":"Alonso-Luengo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"10.1186\/1750-1172-8-92-B1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.6.398"},{"key":"10.1186\/1750-1172-8-92-B2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20314"},{"key":"10.1186\/1750-1172-8-92-B3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-72"},{"key":"10.1186\/1750-1172-8-92-B4","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-14"},{"key":"10.1186\/1750-1172-8-92-B5","doi-asserted-by":"publisher","DOI":"10.1038\/190372a0"},{"key":"10.1186\/1750-1172-8-92-B7","doi-asserted-by":"publisher","DOI":"10.1172\/JCI34470"},{"key":"10.1186\/1750-1172-8-92-B8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1275-9"},{"key":"10.1186\/1750-1172-8-92-B9","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.11.006"},{"key":"10.1186\/1750-1172-8-92-B11","doi-asserted-by":"publisher","DOI":"10.1136\/adc.58.11.911"},{"key":"10.1186\/1750-1172-8-92-B12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I"},{"key":"10.1186\/1750-1172-8-92-B13","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"10.1186\/1750-1172-8-92-B14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440625"},{"key":"10.1186\/1750-1172-8-92-B15","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.e29"},{"key":"10.1186\/1750-1172-8-92-B17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01574.x"},{"key":"10.1186\/1750-1172-8-92-B18","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34415"},{"key":"-","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33770"},{"key":"10.1186\/1750-1172-8-92-B20","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"10.1186\/1750-1172-8-92-B21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ab.2009.01.032"},{"key":"10.1186\/1750-1172-8-92-B24","doi-asserted-by":"publisher","DOI":"10.1126\/science.1257746"},{"key":"10.1186\/1750-1172-8-92-B26","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-10"},{"key":"10.1186\/1750-1172-8-92-B31","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012993305223"},{"key":"10.1186\/1750-1172-8-92-B32","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"10.1186\/1750-1172-8-92-B34","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"10.1186\/1750-1172-8-92-B37","doi-asserted-by":"publisher","DOI":"10.1172\/JCI33166"},{"key":"10.1186\/1750-1172-8-92-B39","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201398"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","deposited":{"date-parts":[[2016,5,16]],"date-time":"2016-05-16T13:14:29Z","timestamp":1463404469000},"score":1,"resource":{"primary":{"URL":"http:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-8-92"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013]]}},"alternative-id":["1750-1172-8-92"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-8-92","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"print"}],"subject":[],"published":{"date-parts":[[2013]]}}}