{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T11:58:01Z","timestamp":1773230281943,"version":"3.50.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2014,12]]},"DOI":"10.1186\/1750-1172-9-51","type":"journal-article","created":{"date-parts":[[2014,4,14]],"date-time":"2014-04-14T13:01:57Z","timestamp":1397480517000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease"],"prefix":"10.1186","volume":"9","author":[{"given":"Laura","family":"van Dussen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marieke","family":"Biegstraaten","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla EM","family":"Hollak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel GW","family":"Dijkgraaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2014,4,14]]},"reference":[{"key":"737_CR1","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1007\/s10545-008-0832-y","volume":"31","author":"M Biegstraaten","year":"2008","unstructured":"Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE: 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J Inherit Metab Dis. 2008, 31: 337-349. 10.1007\/s10545-008-0832-y.","journal-title":"J Inherit Metab Dis"},{"key":"737_CR2","volume-title":"The Online Metabolic & Molecular Bases of Inherited Disease (Valle D","author":"GA Grabowski","year":"2010","unstructured":"Grabowski GA, Petsko GA, Kolodny EH: Gaucher Disease. The Online Metabolic & Molecular Bases of Inherited Disease (Valle D. Edited by: Beaudet AL, Vogelstein B, Kinzler K, Antonarakis SE, Ballabio A. New York: McGraw-Hill; 2010."},{"key":"737_CR3","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1016\/S1096-7192(02)00122-1","volume":"77","author":"PK Mistry","year":"2002","unstructured":"Mistry PK, Sirrs S, Chan A, Pritzker MR, Duffy TP, Grace ME, Meeker DP, Goldman ME: Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab. 2002, 77: 91-98. 10.1016\/S1096-7192(02)00122-1.","journal-title":"Mol Genet Metab"},{"key":"737_CR4","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1093\/qjmed\/89.9.691","volume":"89","author":"O Neudorfer","year":"1996","unstructured":"Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E, Reches A, Bembi B, Zimran A: Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM. 1996, 89: 691-694. 10.1093\/qjmed\/89.9.691.","journal-title":"QJM"},{"key":"737_CR5","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.bcmd.2005.08.004","volume":"36","author":"M de Fost","year":"2006","unstructured":"de Fost M, vom Dahl S, Weverling GJ, Brill N, Brett S, Haussinger D, Hollak CE: Increased incidence of cancer in adult Gaucher disease in Western Europe. Blood Cells Mol Dis. 2006, 36: 53-58. 10.1016\/j.bcmd.2005.08.004.","journal-title":"Blood Cells Mol Dis"},{"key":"737_CR6","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1002\/1097-0142(19930701)72:1<219::AID-CNCR2820720139>3.0.CO;2-Y","volume":"72","author":"A Shiran","year":"1993","unstructured":"Shiran A, Brenner B, Laor A, Tatarsky I: Increased risk of cancer in patients with Gaucher disease. Cancer. 1993, 72: 219-224. 10.1002\/1097-0142(19930701)72:1<219::AID-CNCR2820720139>3.0.CO;2-Y.","journal-title":"Cancer"},{"key":"737_CR7","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1186\/1750-1172-8-29","volume":"8","author":"SM Rombach","year":"2013","unstructured":"Rombach SM, Hollak CE, Linthorst GE, Dijkgraaf MG: Cost-effectiveness of enzyme replacement therapy for Fabry disease. Orphanet J Rare Dis. 2013, 8: 29-10.1186\/1750-1172-8-29.","journal-title":"Orphanet J Rare Dis"},{"key":"737_CR8","first-page":"595","volume":"165","author":"JT Clarke","year":"2001","unstructured":"Clarke JT, Amato D, Deber RB: Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario. CMAJ. 2001, 165: 595-596.","journal-title":"CMAJ"},{"key":"737_CR9","first-page":"16","volume":"14","author":"MF Drummond","year":"2008","unstructured":"Drummond MF: Challenges in the economic evaluation of orphan drugs. Eurohealth. 2008, 14: 16-17.","journal-title":"Eurohealth"},{"key":"737_CR10","first-page":"iii-136","volume":"10","author":"M Connock","year":"2006","unstructured":"Connock M, Burls A, Frew E, Fry-Smith A, Juarez-Garcia A, McCabe C, Wailoo A, Abrams K, Cooper N, Sutton A, O'Hagan A, Moore D: The clinical effectiveness and cost-effectiveness of enzyme replacement therapy for Gaucher's disease: a systematic review. Health Technol Assess. 2006, 10: iii-136.","journal-title":"Health Technol Assess"},{"key":"737_CR11","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3310\/hta16390","volume":"16","author":"K Wyatt","year":"2012","unstructured":"Wyatt K, Henley W, Anderson L, Anderson R, Nikolaou V, Stein K, Klinger L, Hughes D, Waldek S, Lachmann R, Mehta A, Vellodi A, Logan S: The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders. Health Technol Assess. 2012, 16: 1-543.","journal-title":"Health Technol Assess"},{"key":"737_CR12","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1111\/j.1445-2197.2007.04405.x","volume":"78","author":"J Ludbrook","year":"2008","unstructured":"Ludbrook J, Royse AG: Analysing clinical studies: principles, practice and pitfalls of Kaplan-Meier plots. ANZJ Surg. 2008, 78: 204-210. 10.1111\/j.1445-2197.2007.04405.x.","journal-title":"ANZJ Surg"},{"key":"737_CR13","doi-asserted-by":"publisher","first-page":"397","DOI":"10.2165\/00019053-199813040-00003","volume":"13","author":"A Briggs","year":"1998","unstructured":"Briggs A, Sculpher M: An introduction to Markov modelling for economic evaluation. Pharmacoeconomics. 1998, 13: 397-409. 10.2165\/00019053-199813040-00003.","journal-title":"Pharmacoeconomics"},{"key":"737_CR14","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1097\/00005650-199711000-00002","volume":"35","author":"P Dolan","year":"1997","unstructured":"Dolan P: Modeling valuations for EuroQol health states. Med Care. 1997, 35: 1095-1108. 10.1097\/00005650-199711000-00002.","journal-title":"Med Care"},{"key":"737_CR15","doi-asserted-by":"publisher","first-page":"1121","DOI":"10.1002\/hec.1124","volume":"15","author":"LM Lamers","year":"2006","unstructured":"Lamers LM, McDonnell J, Stalmeier PF, Krabbe PF, Busschbach JJ: The Dutch tariff: results and arguments for an effective design for national EQ-5D valuation studies. Health Econ. 2006, 15: 1121-1132. 10.1002\/hec.1124.","journal-title":"Health Econ"},{"key":"737_CR16","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1023\/A:1026446302100","volume":"6","author":"AE Clarke","year":"1997","unstructured":"Clarke AE, Goldstein MK, Michelson D, Garber AM, Lenert LA: The effect of assessment method and respondent population on utilities elicited for Gaucher disease. Qual Life Res. 1997, 6: 169-184.","journal-title":"Qual Life Res"},{"key":"737_CR17","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.2165\/00019053-200119110-00003","volume":"19","author":"RE Brown","year":"2001","unstructured":"Brown RE, Hutton J, Burrell A: Cost effectiveness of treatment options in advanced breast cancer in the UK. Pharmacoeconomics. 2001, 19: 1091-1102. 10.2165\/00019053-200119110-00003.","journal-title":"Pharmacoeconomics"},{"key":"737_CR18","volume-title":"Unit Costs in hospitals","author":"F Asselman","year":"2008","unstructured":"Asselman F: Unit Costs in hospitals. 1st edition. Bohn Stafleu van Loghum: Meppel; 2008.","edition":"1"},{"key":"737_CR19","volume-title":"Manual for cost research; methods and unitcosts for economic evaluations in health care, actualized version 2010","author":"L Hakkaart-van Roijen","year":"2010","unstructured":"Hakkaart-van Roijen L, Tan SS, Bouwmans CAM: Manual for cost research; methods and unitcosts for economic evaluations in health care, actualized version 2010. Diemen: Handleiding voor kostenonderzoek: methoden en standaard kostprijzen voor economische evaluaties in de gezondheidszorg; 2010."},{"key":"737_CR20","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/bmj.331.7514.446","volume":"331","author":"WB Brouwer","year":"2005","unstructured":"Brouwer WB, Niessen LW, Postma MJ, Rutten FF: Need for differential discounting of costs and health effects in cost effectiveness analyses. BMJ. 2005, 331: 446-448. 10.1136\/bmj.331.7514.446.","journal-title":"BMJ"},{"issue":"1","key":"737_CR21","doi-asserted-by":"publisher","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, Szer J, Wilson M: Enzyme replacement therapy \"drug holiday\": Results from an unexpected shortage of an orphan drug supply in Australia. Blood Cells Mol Dis. 2011, 46 (1): 107-110. 10.1016\/j.bcmd.2010.05.002.","journal-title":"Blood Cells Mol Dis"},{"issue":"1","key":"737_CR22","doi-asserted-by":"publisher","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: Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis. 2011, 46 (1): 111-114. 10.1016\/j.bcmd.2010.05.001.","journal-title":"Blood Cells Mol Dis"},{"key":"737_CR23","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1750-1172-6-16","volume":"6","author":"CE Hollak","year":"2011","unstructured":"Hollak CE, Aerts JM, Ayme S, Manuel J: Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders. Orphanet J Rare Dis. 2011, 6: 16-10.1186\/1750-1172-6-16.","journal-title":"Orphanet J Rare Dis"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-9-51.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,2]],"date-time":"2021-09-02T03:25:26Z","timestamp":1630553126000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-9-51"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,4,14]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,12]]}},"alternative-id":["737"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-9-51","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,4,14]]},"assertion":[{"value":"2 November 2013","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 March 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"51"}}