{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T15:17:58Z","timestamp":1793459878519,"version":"4.5.0"},"reference-count":19,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T00:00:00Z","timestamp":1410307200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Arch. Immunol. Ther. Exp."],"published-print":{"date-parts":[[2015,2]]},"DOI":"10.1007\/s00005-014-0308-8","type":"journal-article","created":{"date-parts":[[2014,9,9]],"date-time":"2014-09-09T07:56:34Z","timestamp":1410249394000},"page":"65-71","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Impact of Imiglucerase Supply Shortage on Clinical and Laboratory Parameters in Norrbottnian Patients with Gaucher Disease Type 3"],"prefix":"10.2478","volume":"63","author":[{"given":"Maciej","family":"Machaczka","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilia","family":"K\u00e4mpe Bj\u00f6rkvall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Wieremiejczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Paucar Arce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Myhr-Eriksson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Klimkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"H\u00e4gglund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Per","family":"Svenningsson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2014,9,10]]},"reference":[{"key":"308_CR1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1016\/S0009-9120(99)00098-3","volume":"33","author":"B Czartoryska","year":"2000","unstructured":"Czartoryska B, Tylki-Szyma\u0144ska A, \u0141ugowska A (2000) Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease. Clin Biochem 33:147\u2013149","journal-title":"Clin Biochem"},{"key":"308_CR2","first-page":"275","volume":"47","author":"N Dahl","year":"1990","unstructured":"Dahl N, Lagerstr\u00f6m M, Erikson A et al (1990) Gaucher disease type III (Norrbottnian type) is caused by a single mutation in exon 10 of the glucocerebrosidase gene. Am J Hum Genet 47:275\u2013278","journal-title":"Am J Hum Genet"},{"key":"308_CR3","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1007\/s10545-011-9347-z","volume":"34","author":"EH Davies","year":"2011","unstructured":"Davies EH, Mengel E, Tylki-Szyma\u0144ska A et al (2011) Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool. J Inherit Metab Dis 34:1053\u20131059","journal-title":"J Inherit Metab Dis"},{"key":"308_CR4","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/8904_2012_158","volume":"7","author":"L Deroma","year":"2013","unstructured":"Deroma L, Sechi A, Dardis A et al (2013) Did the temporary shortage in supply of imiglucerase have clinical consequences? Retrospective observational study of 34 Italian Gaucher type I patients. JIMD Rep 7:117\u2013122","journal-title":"JIMD Rep"},{"key":"308_CR5","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00441578","volume":"133","author":"S Dreborg","year":"1980","unstructured":"Dreborg S, Erikson A, Hagberg B (1980) Gaucher disease\u2014Norrbottnian type. General clinical description. Eur J Pediatr 133:107\u2013118","journal-title":"Eur J Pediatr"},{"key":"308_CR6","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/S0950-3536(97)80035-2","volume":"10","author":"A Erikson","year":"1997","unstructured":"Erikson A, Bembi B, Schiffmann R (1997) Neuronopathic forms of Gaucher\u2019s disease. Baillieres Clin Haematol 10:711\u2013723","journal-title":"Baillieres Clin Haematol"},{"key":"308_CR7","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1080\/08035250500423804","volume":"95","author":"A Erikson","year":"2006","unstructured":"Erikson A, Forsberg H, Nilsson M et al (2006) Ten years\u2019 experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease. Acta Paediatr 95:312\u2013317","journal-title":"Acta Paediatr"},{"key":"308_CR8","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.bcmd.2010.09.005","volume":"46","author":"P Giraldo","year":"2011","unstructured":"Giraldo P, Irun P, Alfonso P et al (2011) Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage. Blood Cells Mol Dis 46:115\u2013118","journal-title":"Blood Cells Mol Dis"},{"key":"308_CR9","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1016\/j.bcmd.2010.05.002","volume":"46","author":"J Goldblatt","year":"2011","unstructured":"Goldblatt J, Fletcher JM, McGill J et al (2011) Enzyme replacement therapy \u201cdrug holiday\u201d: results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis 46:107\u2013110","journal-title":"Blood Cells Mol Dis"},{"key":"308_CR10","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1016\/j.bcmd.2009.09.006","volume":"44","author":"C Hollak","year":"2010","unstructured":"Hollak C, vom Dahl S, Aerts JM et al (2010) Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis 44:41\u201347","journal-title":"Blood Cells Mol Dis"},{"key":"308_CR11","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/j.achaem.2013.07.019","volume":"44","author":"M Machaczka","year":"2013","unstructured":"Machaczka M (2013) What hematologist needs to know about Gaucher disease. Acta Haematol Pol 44:301\u2013306","journal-title":"Acta Haematol Pol"},{"key":"308_CR12","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/s10545-010-9241-0","volume":"34","author":"M Machaczka","year":"2011","unstructured":"Machaczka M, Klimkowska M, Regenthal S et al (2011) Gaucher disease with foamy transformed macrophages and erythrophagocytic activity. J Inherit Metab Dis 34:233\u2013235","journal-title":"J Inherit Metab Dis"},{"key":"308_CR13","doi-asserted-by":"crossref","first-page":"28","DOI":"10.3109\/03009734.2011.641609","volume":"117","author":"M Machaczka","year":"2012","unstructured":"Machaczka M, Hast R, Dahlman I et al (2012a) Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution. Ups J Med Sci 117:28\u201334","journal-title":"Ups J Med Sci"},{"key":"308_CR14","doi-asserted-by":"crossref","first-page":"169","DOI":"10.2478\/v10039-012-0021-y","volume":"57","author":"M Machaczka","year":"2012","unstructured":"Machaczka M, Klimkowska M, H\u00e4gglund H (2012b) Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease. Adv Med Sci 57:169\u2013173","journal-title":"Adv Med Sci"},{"key":"308_CR15","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1097\/00007890-199503000-00011","volume":"59","author":"O Ringd\u00e9n","year":"1995","unstructured":"Ringd\u00e9n O, Groth CG, Erikson A et al (1995) Ten years\u2019 experience of bone marrow transplantation for Gaucher disease. Transplantation 59:864\u2013870","journal-title":"Transplantation"},{"key":"308_CR16","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1002\/gps.4030","volume":"29","author":"R Sanchez-Arenas","year":"2014","unstructured":"Sanchez-Arenas R, Vargas-Alarcon G, Sanchez-Garcia S et al (2014) Value of EQ-5D in Mexican city older population with and without dementia (SADEM study). Int J Geriatr Psychiatry 29:478\u2013488","journal-title":"Int J Geriatr Psychiatry"},{"key":"308_CR17","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1159\/000112184","volume":"13","author":"L Svennerholm","year":"1991","unstructured":"Svennerholm L, Erikson A, Groth CG et al (1991) Norrbottnian type of Gaucher disease\u2014clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation. Dev Neurosci 13:345\u2013351","journal-title":"Dev Neurosci"},{"key":"308_CR18","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1182\/blood-2011-04-308890","volume":"118","author":"A Zimran","year":"2011","unstructured":"Zimran A (2011) How I treat Gaucher disease. Blood 118:1463\u20131471","journal-title":"Blood"},{"key":"308_CR19","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.bcmd.2010.05.001","volume":"46","author":"A Zimran","year":"2011","unstructured":"Zimran A, Altarescu G, Elstein D (2011) Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis 46:111\u2013114","journal-title":"Blood Cells Mol Dis"}],"container-title":["Archivum Immunologiae et Therapiae Experimentalis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00005-014-0308-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00005-014-0308-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00005-014-0308-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,2]],"date-time":"2024-01-02T20:48:19Z","timestamp":1704228499000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00005-014-0308-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,10]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,2]]}},"alternative-id":["308"],"URL":"https:\/\/doi.org\/10.1007\/s00005-014-0308-8","relation":{},"ISSN":["0004-069X","1661-4917"],"issn-type":[{"value":"0004-069X","type":"print"},{"value":"1661-4917","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,10]]}}}