{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:02:18Z","timestamp":1791259338395,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,6,29]],"date-time":"2011-06-29T00:00:00Z","timestamp":1309305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2012,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Aim:\u2002<\/jats:bold> We present a 3\u2010year follow\u2010up of a boy with mucopolysaccharidosis type II (MPS II) who had idursulfase therapy initiated at the age of 3\u2003months and compare his clinical course to his healthy twin brother.<\/jats:p><jats:p><jats:bold>Methods:\u2002<\/jats:bold> Detailed anthropometric features, ultrasound studies of liver and spleen volumes, echocardiography and audiological examinations, psychological tests, joint range of motion (ROM) and skeletal radiographs were monitored.<\/jats:p><jats:p><jats:bold>Results:\u2002<\/jats:bold> After 3\u2003years of treatment, the patient has not developed any clinical manifestations of MPS II. He did not develop coarse facial features, joint disease, or organomegaly, and his cardiac function remained normal. There were no pronounced signs of <jats:italic>dysostosis multiplex<\/jats:italic> on radiographs. The only difference when compared with his healthy twin brother was lower IQ (Termann\u2010Merrill 98 vs. 118) and mild deformity of one vertebrae.<\/jats:p><jats:p><jats:bold>Conclusion:\u2002<\/jats:bold> Our study suggests that early initiation of enzyme replacement therapy may significantly slow or prevent the development of irreversible disease manifestations and therefore modify the natural history of MPS II.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2011.02385.x","type":"journal-article","created":{"date-parts":[[2011,6,14]],"date-time":"2011-06-14T16:04:45Z","timestamp":1308067485000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":53,"title":["Enzyme replacement therapy for mucopolysaccharidosis II from 3\u2003months of age: a 3\u2010year follow\u2010up"],"prefix":"10.1111","volume":"101","author":[{"given":"A","family":"Tylki\u2010 Szymanska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Jurecka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z","family":"Zuber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rozdzynska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Marucha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Czartoryska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,6,29]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"3421","volume-title":"The metabolic and molecular basis of inherited disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1350"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/BPB.0b013e3283317b7a"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232477.37660.fb"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.09.001"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e318206786f"},{"key":"e_1_2_6_8_2","article-title":"Female Hunter syndrome caused by a single mutation and familial XCI skewing: implications for other X\u2010linked disorders","author":"Kloska A","journal-title":"Clin Genet"},{"key":"e_1_2_6_9_2","first-page":"1","article-title":"Wska\u017aniki rozwoju somatycznego dzieci i m\u0142odzie\u017cy warszawskiej","volume":"5","author":"Palczewska L","year":"2001","journal-title":"Med Wieku Rozw"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00007-6"},{"key":"e_1_2_6_11_2","first-page":"597","article-title":"Molecular diagnosis of mucopolysaccharidosis type II (Hunter syndrome) by automated sequencing and computer\u2010assisted interpretation: toward mutation mapping of the iduronate\u20102\u2010sulfatase gene","volume":"56","author":"Jonsson JJ","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9215-2"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.008"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2010.02060.x"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.07.013"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-1728"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01324.x"}],"container-title":["Acta Paediatrica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1651-2227.2011.02385.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1651-2227.2011.02385.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T01:06:39Z","timestamp":1697418399000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1651-2227.2011.02385.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,6,29]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["10.1111\/j.1651-2227.2011.02385.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1651-2227.2011.02385.x","archive":["Portico"],"relation":{},"ISSN":["0803-5253","1651-2227"],"issn-type":[{"value":"0803-5253","type":"print"},{"value":"1651-2227","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,6,29]]},"assertion":[{"value":"2011-06-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}