{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T02:16:40Z","timestamp":1792030600626,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,7,14]],"date-time":"2009-07-14T00:00:00Z","timestamp":1247529600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a progressive, multisystemic disease caused by a deficiency of iduronate\u20102\u2010sulfatase. Patients with the severe form of the disease have cognitive impairment and typically die in the second decade of life. Patients with the less severe form do not experience significant cognitive involvement and may survive until the fifth or sixth decade of life. We studied the relationship of both severity of MPS II and the time period in which patients died with age at death in 129 patients for whom data were entered retrospectively into HOS (Hunter Outcome Survey), the only large\u2010scale, multinational observational study of patients with MPS II. Median age at death was significantly lower in patients with cognitive involvement compared with those without cognitive involvement (11.7 versus 14.1 years;\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.024). These data indicate that cognitive involvement is indicative of more severe disease and lower life expectancy in patients with MPS II. Median age at death was significantly lower in patients who died in or before 1985 compared with those who died after 1985 (11.3 versus 14.1 years;\n                    <jats:italic>p<\/jats:italic>\n                    \u03b1 0.001). The difference in age at death between patients dying in or before, relative to after, the selected cut\u2010off date of 1985 may reflect improvements in patient identification, care and management over the past two decades. Data from patients who died after 1985 could serve as a control in analyses of the effects of enzyme replacement therapy with idursulfase on mortality in patients with MPS II.\n                  <\/jats:p>","DOI":"10.1007\/s10545-009-1119-7","type":"journal-article","created":{"date-parts":[[2009,7,13]],"date-time":"2009-07-13T13:08:05Z","timestamp":1247490485000},"page":"534-543","source":"Crossref","is-referenced-by-count":153,"title":["Mortality and cause of death in mucopolysaccharidosis type II\u2014a historical review based on data from the Hunter Outcome Survey (HOS)"],"prefix":"10.1002","volume":"32","author":[{"given":"S. A.","family":"Jones","sequence":"first","affiliation":[{"name":"Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, St Mary's Hospital Oxford Road Manchester M13 9WL UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Alm\u00e1ssy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Heim Pal Paediatric Hospital Budapest Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Paediatrics University of Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Burt","sequence":"additional","affiliation":[{"name":"Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, St Mary's Hospital Oxford Road Manchester M13 9WL UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. T.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Hospital for Sick Children Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas\/UFRGS Porto Alegre RS Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Hendriksz","sequence":"additional","affiliation":[{"name":"Birmingham Children's Hospital Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Kroepfl","sequence":"additional","affiliation":[{"name":"Clinic for Children and Adolescents University Hospital Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Lavery","sequence":"additional","affiliation":[{"name":"MPS Society Amersham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010P.","family":"Lin","sequence":"additional","affiliation":[{"name":"Departments of Paediatrics and Medical Research Mackay Memorial Hospital Taipei Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Malm","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Karolinska University Hospital Huddinge Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U.","family":"Ramaswami","sequence":"additional","affiliation":[{"name":"Paediatric Metabolic Unit Addenbrooke's Hospital Cambridge UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Tincheva","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Paediatric Hospital Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. E.","family":"Wraith","sequence":"additional","affiliation":[{"name":"Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals, NHS Foundation Trust, St Mary's Hospital Oxford Road Manchester M13 9WL UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"on behalf of the HOS Investigators","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,7,14]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0112-z"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01424.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.10.e29"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0521-2"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318183f132"},{"key":"e_1_2_6_7_1","first-page":"104","article-title":"A rare disease in two brothers","volume":"10","author":"Hunter C","year":"1917","journal-title":"Proc R Soc Med"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinthera.2007.07.004"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-5876(93)90096-L"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232477.37660.fb"},{"key":"e_1_2_6_11_1","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld EF","year":"2001"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.01.011"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02186.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-2895"},{"key":"e_1_2_6_16_1","first-page":"77","article-title":"Enzyme replacement therapy and renal function in 201 patients with Fabry disease","volume":"66","author":"Schwarting A","year":"2006","journal-title":"Clin Nephrol"},{"key":"e_1_2_6_17_1","first-page":"139","volume-title":"Fabry disease: perspectives from 5 years of FOS","author":"Thadhani R","year":"2006"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005525931994"},{"key":"e_1_2_6_20_1","unstructured":"VellodiA WraithJE ClearyM RamaswamiU LaveryC JessopE(2007)Guidelines for the investigation and management of patients with mucopolysaccharidosis type II.http:\/\/www.ncg.nhs.uk\/documents\/lsd_guidelines_for_mucopolysaccharidosis_type_II\u2010120207.pdf. Gateway ID: 7848. Accessed November 2008"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e31817701e6"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0635-4"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.11.828"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1119-7","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-009-1119-7","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-1119-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T14:32:02Z","timestamp":1694788322000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-1119-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,14]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1007\/s10545-009-1119-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-1119-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,14]]}}}