{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T07:46:21Z","timestamp":1788507981490,"version":"build-2803163510"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,6,6]],"date-time":"2013-06-06T00:00:00Z","timestamp":1370476800000},"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":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most alpha\u2010mannosidosis patients described have been children and information on the natural course of the disorder has been based on a very limited number of observations. In order to assess the disease presentation in detail and to study disease characteristics, a study was started in 1991 and has been ongoing for over 20 years. Patients with confirmed alpha\u2010mannosidosis were recruited through The International Society for Mannosidosis and Related Diseases (ISMRD) where families affected with alpha\u2010mannosidosis received a questionnaire on general clinical information to be filled out by the responsible physician. The questionnaire was returned by 125 patients (64 %). Of these, 45 patients were 15 years old or older at the time of evaluation. The questionnaire allowed us to assess the following features: Facial dysmorphism, columnar disease, arthritis, myopathy, hearing impairment, mental impairment, psychosis, bone disease and motor function as well as general health. This study describes the progression of alpha\u2010mannosidosis and may be helpful in determining the clinical characteristics for assessments of prognosis.<\/jats:p>","DOI":"10.1007\/s10545-013-9622-2","type":"journal-article","created":{"date-parts":[[2013,6,5]],"date-time":"2013-06-05T10:10:51Z","timestamp":1370427051000},"page":"79-82","source":"Crossref","is-referenced-by-count":44,"title":["The natural course and complications of alpha\u2010mannosidosis\u2014a retrospective and descriptive study"],"prefix":"10.1002","volume":"37","author":[{"given":"Dag","family":"Malm","sequence":"first","affiliation":[{"name":"Troms\u00f8 Centre of Internal Medicine (TIS as) Troms\u00f8 9008 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde Monica Frostad","family":"Riise Stensland","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Division of Child and Adolescent Health University Hospital of North Norway Troms\u00f8 9038 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8yvind","family":"Edvardsen","sequence":"additional","affiliation":[{"name":"Department of academic affairs Aalesund University College Aalesund 6009 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00d8ivind","family":"Nilssen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Division of Child and Adolescent Health University Hospital of North Norway Troms\u00f8 9038 Norway"},{"name":"Department of Clinical Medicine \u2013 Medical Genetics University of Troms\u00f8 Troms\u00f8 9037 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,6,6]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302183"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-51582-8_4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(03)00172-4"},{"issue":"21","key":"e_1_2_6_5_1","article-title":"(2008\u20132011) Alpha\u2010mannosidosis","volume":"3","author":"Malm D","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310000545"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0583"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.5.717"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9093-7"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22005"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2011.05.006"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1997.00410.x"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-013-9622-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:45:27Z","timestamp":1694756727000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-013-9622-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,6,6]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1007\/s10545-013-9622-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-013-9622-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,6,6]]}}}