{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T20:29:36Z","timestamp":1790713776075,"version":"4.1.0"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,2,1]],"date-time":"2018-02-01T00:00:00Z","timestamp":1517443200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100003514","name":"Stockholm City Council","doi-asserted-by":"publisher","award":["542502"],"award-info":[{"award-number":["542502"]}],"id":[{"id":"10.13039\/501100003514","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2018,2]]},"DOI":"10.1016\/j.bcmd.2016.10.011","type":"journal-article","created":{"date-parts":[[2016,10,21]],"date-time":"2016-10-21T03:17:48Z","timestamp":1477019868000},"page":"86-92","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":20,"special_numbering":"C","title":["Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients"],"prefix":"10.1016","volume":"68","author":[{"given":"Maciej","family":"Machaczka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Paucar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia K\u00e4mpe","family":"Bj\u00f6rkvall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicholas J.C.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy M","family":"Cox","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars","family":"Forsgren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Svenningsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bcmd.2016.10.011_bb0005","first-page":"299","article-title":"Gaucher disease: clinical profile and therapeutic developments","volume":"4","author":"Cox","year":"2010","journal-title":"Biologics"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0010","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1182\/asheducation.V2012.1.13.3797921","article-title":"Gaucher disease and other storage disorders","author":"Grabowski","year":"2012","journal-title":"Hematology Am. Soc. Hematol. Educ. Program"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0015","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1016\/0005-2760(82)90272-7","article-title":"The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease","volume":"712","author":"Nilsson","year":"1982","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0020","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1182\/blood-2011-04-308890","article-title":"How I treat Gaucher disease","volume":"118","author":"Zimran","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0025","series-title":"Cerebral Sphingolipidoses: A Symposium on Tay-Sachs Disease and Allied Disorders","first-page":"395","article-title":"Genetics of the sphingolipidoses","year":"1962"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0030","first-page":"475","article-title":"La maladie de Gaucher chez le nourisson","volume":"3","author":"Oberling","year":"1927","journal-title":"Rev. Franc. de Paediatr."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0035","first-page":"303","article-title":"Morbus Gaucher: Norrbotten","volume":"61","author":"Hilborg","year":"1959","journal-title":"Nord. Med."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0040","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1007\/s00005-014-0308-8","article-title":"Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3","volume":"63","author":"Machaczka","year":"2015","journal-title":"Arch. Immunol. Ther. Exp."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0045","first-page":"275","article-title":"Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene","volume":"47","author":"Dahl","year":"1990","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0050","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/BF00216461","article-title":"Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies","volume":"92","author":"Dahl","year":"1993","journal-title":"Hum. Genet."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0055","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00441578","article-title":"Gaucher disease\u2014Norrbottnian type. I. General clinical description","volume":"133","author":"Dreborg","year":"1980","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0060","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/BF00442672","article-title":"Gaucher disease\u2014Norrbottnian type. Neurodevelopmental, neurological, and neurophysiological aspects","volume":"140","author":"Blom","year":"1983","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0065","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/BF00690463","article-title":"Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies","volume":"65","author":"Conradi","year":"1984","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0070","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","article-title":"Occurrence of Parkinson\u2019s syndrome in type I Gaucher disease","volume":"89","author":"Neudorfer","year":"1996","journal-title":"QJM"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0075","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/(SICI)1096-8652(199907)61:3<216::AID-AJH12>3.0.CO;2-B","article-title":"Parkinson's syndrome preceding clinical manifestation of Gaucher's disease","volume":"61","author":"Machaczka","year":"1999","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0080","doi-asserted-by":"crossref","first-page":"2909","DOI":"10.1093\/brain\/awq198","article-title":"Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study","volume":"133","author":"Biegstraaten","year":"2010","journal-title":"Brain"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0085","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1001\/jamaneurol.2014.313","article-title":"Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes","volume":"71","author":"Alcalay","year":"2014","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0090","doi-asserted-by":"crossref","first-page":"1651","DOI":"10.1056\/NEJMoa0901281","article-title":"Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease","volume":"361","author":"Sidransky","year":"2009","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0095","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1093\/brain\/awp044","article-title":"Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease","volume":"132","author":"Neumann","year":"2009","journal-title":"Brain"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0100","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1001\/jamaneurol.2014.2950","article-title":"Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort","volume":"72","author":"Beavan","year":"2015","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0105","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1007\/s10545-011-9347-z","article-title":"Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool","volume":"34","author":"Davies","year":"2011","journal-title":"J. Inherit. Metab. Dis."},{"issue":"Suppl. 1","key":"10.1016\/j.bcmd.2016.10.011_bb0110","first-page":"S12","article-title":"Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher registry","volume":"90","author":"Grabowski","year":"2015","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0115","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1093\/qjmed\/hch036","article-title":"Twin pairs showing discordance of phenotype in adult Gaucher's disease","volume":"97","author":"Lachmann","year":"2004","journal-title":"QJM"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0120","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.bcmd.2010.10.007","article-title":"A monozygotic twin pair with highly discordant Gaucher phenotypes","volume":"46","author":"Biegstraaten","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0125","series-title":"Gaucher disease","first-page":"175","article-title":"Neuronopathic Gaucher disease","author":"Schiffmann","year":"2007"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0130","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/s10545-009-9009-6","article-title":"Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry","volume":"33","author":"Tylki-Szyma\u0144ska","year":"2010","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0135","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1203\/01.PDR.0000049515.79882.94","article-title":"Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup","volume":"53","author":"Park","year":"2003","journal-title":"Pediatr. Res."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0140","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1001\/archneur.65.10.1353","article-title":"The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations","volume":"65","author":"Goker-Alpan","year":"2008","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0145","doi-asserted-by":"crossref","first-page":"212.e5","DOI":"10.1016\/j.neurobiolaging.2016.04.022","article-title":"Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden","volume":"45","author":"Ran","year":"2016","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.bcmd.2016.10.011_bb0150","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1007\/s10545-006-0154-x","article-title":"Psychological complications of patients with Gaucher disease","volume":"29","author":"Packman","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0155","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1007\/s10545-012-9460-7","article-title":"The cognitive profile of type 1 Gaucher disease patients","volume":"35","author":"Biegstraaten","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0160","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/BF00687792","article-title":"Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease","volume":"75","author":"Conradi","year":"1988","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.bcmd.2016.10.011_bb0165","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1097\/00007890-199503000-00011","article-title":"Ten years' experience of bone marrow transplantation for Gaucher disease","volume":"59","author":"Ringd\u00e9n","year":"1995","journal-title":"Transplantation"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979616302091?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979616302091?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:33:53Z","timestamp":1761050033000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979616302091"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":33,"alternative-id":["S1079979616302091"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2016.10.011","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2018,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2016.10.011","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}