{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T15:17:59Z","timestamp":1793459879992,"version":"4.5.0"},"reference-count":22,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Molecular Genetics and Metabolism"],"published-print":{"date-parts":[[2009,8]]},"DOI":"10.1016\/j.ymgme.2009.05.001","type":"journal-article","created":{"date-parts":[[2009,5,11]],"date-time":"2009-05-11T08:18:42Z","timestamp":1242029922000},"page":"272-277","source":"Crossref","is-referenced-by-count":69,"title":["Clinical and genetic study of Japanese patients with type 3 Gaucher disease"],"prefix":"10.1016","volume":"97","author":[{"given":"Asako","family":"Tajima","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takayuki","family":"Yokoi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masamichi","family":"Ariga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeru","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiko","family":"Kaneshiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshikatsu","family":"Eto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroyuki","family":"Ida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2009.05.001_bib1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJM198703053161002","article-title":"A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher\u2019s disease","volume":"316","author":"Tsuji","year":"1987","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgme.2009.05.001_bib2","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/S0002-9343(02)01150-6","article-title":"Effectiveness of enzyme placement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5years of treatment: a report from the Gaucher Registry","volume":"113","author":"Weinreb","year":"2002","journal-title":"Am. J. Med."},{"key":"10.1016\/j.ymgme.2009.05.001_bib3","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1542\/peds.2007-2144","article-title":"Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1","volume":"122","author":"Andersson","year":"2008","journal-title":"Pediatrics"},{"key":"10.1016\/j.ymgme.2009.05.001_bib4","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1097\/00007890-199503000-00011","article-title":"Ten years\u2019 experience of bone marrow transplantation for Gaucher disease","volume":"59","author":"Ringden","year":"1995","journal-title":"Transplantation"},{"key":"10.1016\/j.ymgme.2009.05.001_bib5","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1023\/B:BOLI.0000045756.54006.17","article-title":"Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type 1 Gaucher disease","volume":"27","author":"Elstein","year":"2004","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib6","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1007\/BF00209497","article-title":"Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations","volume":"95","author":"Ida","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2009.05.001_bib7","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1007\/s004390051073","article-title":"Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation","volume":"105","author":"Ida","year":"1999","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2009.05.001_bib8","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/bcmd.1998.0172","article-title":"Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients","volume":"24","author":"Ida","year":"1998","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib9","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1023\/A:1005313724361","article-title":"Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations","volume":"20","author":"Ida","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib10","doi-asserted-by":"crossref","first-page":"e37","DOI":"10.1136\/jmg.2004.028019","article-title":"Divergent phenotypes in Gaucher disease implicate the role of modifiers","volume":"42","author":"Goker-Alpan","year":"2005","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ymgme.2009.05.001_bib11","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1007\/BF00441578","article-title":"Gaucher disease \u2013 Norrbottnian type","volume":"133","author":"Dreborg","year":"1980","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgme.2009.05.001_bib12","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1159\/000112184","article-title":"Norrbottnian type of Gaucher disease \u2013 clinical, biochemical and molecular biology aspects: successful treatment with bone marrow transplantation","volume":"13","author":"Svennerholm","year":"1991","journal-title":"Dev. Neurosci."},{"key":"10.1016\/j.ymgme.2009.05.001_bib13","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1007\/BF00208943","article-title":"Non-existence of a tight association between a 444 leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form","volume":"84","author":"Masuno","year":"1990","journal-title":"Hum. Genet."},{"key":"10.1016\/j.ymgme.2009.05.001_bib14","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1067\/mpd.2001.112171","article-title":"The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher\u2019s disease","volume":"138","author":"Altarescu","year":"2001","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgme.2009.05.001_bib15","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1080\/08035250500423804","article-title":"Ten years\u2019 experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease","volume":"95","author":"Erikson","year":"2006","journal-title":"Acta Paediatr."},{"key":"10.1016\/j.ymgme.2009.05.001_bib16","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1007\/s10545-007-0577-z","article-title":"Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases","volume":"30","author":"Davies","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib17","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.bbadis.2004.03.007","article-title":"N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease","volume":"1689","author":"Lin","year":"2004","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.ymgme.2009.05.001_bib18","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1111\/j.1528-1167.2007.01074.x","article-title":"Neurologic improvement in a type 3 Gaucher disease patient treated with imiglucerase\/miglustat combination","volume":"48","author":"Capablo","year":"2007","journal-title":"Epilepsia"},{"key":"10.1016\/j.ymgme.2009.05.001_bib19","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1007\/s10545-008-0873-2","article-title":"Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III","volume":"31","author":"Cox-Brinkman","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib20","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1002\/ana.21491","article-title":"Randomized controlled trial of miglustat in Gaucher\u2019s disease type 3","volume":"64","author":"Schiffmann","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.ymgme.2009.05.001_bib21","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1023\/A:1010514614570","article-title":"Neuronopathic Gaucher disease task force of the European working group on Gaucher disease, management of neuronopathic Gaucher disease: a European consensus","volume":"24","author":"Vellodi","year":"2001","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2009.05.001_bib22","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1002\/ana.20444","article-title":"Convection perfusion of glucocerebrosidase for neuronopathic Gaucher\u2019s disease","volume":"57","author":"Lonser","year":"2005","journal-title":"Ann. Neurol."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719209001322?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719209001322?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,12,20]],"date-time":"2018-12-20T00:50:22Z","timestamp":1545267022000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719209001322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,8]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["S1096719209001322"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2009.05.001","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2009,8]]}}}