{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T10:39:42Z","timestamp":1781779182937,"version":"3.54.5"},"reference-count":17,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2002,1]]},"DOI":"10.1006\/bcmd.2001.0477","type":"journal-article","created":{"date-parts":[[2002,9,16]],"date-time":"2002-09-16T10:51:07Z","timestamp":1032173467000},"page":"1-4","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":30,"title":["Early-Onset Severe Neurological Involvement and D409H Homozygosity in Gaucher Disease: Outcome of Enzyme Replacement Therapy"],"prefix":"10.1006","volume":"28","author":[{"given":"H","family":"Michelakakis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Skardoutsou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Mathioudakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Moraitou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Dimitriou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Voudris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Th","family":"Karpathios","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1006\/bcmd.2001.0477_RF1","unstructured":"Beutler, E., and Grabowski, G. A.2001Gaucher disease. InThe Metabolic and Molecular Bases of Inherited Disease (Scriver, C. R., Beaudet, A. L., Valle, D., and Sly, W. S., Eds.; Childs, B., Kinzler, K. W., and Vogelstein, V., Assoc. Eds.), pp. 3635\u20133668. McGraw-Hill, New York."},{"key":"10.1006\/bcmd.2001.0477_RF2","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1006\/bcmd.1998.0165","article-title":"Hematologically important mutations: Gaucher disease","volume":"24","author":"Beutler","year":"1998","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1006\/bcmd.2001.0477_RF3","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1600-0404.1992.tb05109.x","article-title":"Hydrocelphalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings. A new syndrome associated with \u03b2-glucocerebrosidase deficiency and a mosaic population of storage cells","volume":"86","author":"Uyama","year":"1992","journal-title":"Acta Neurol. Scand."},{"key":"10.1006\/bcmd.2001.0477_RF4","doi-asserted-by":"crossref","first-page":"1637","DOI":"10.1016\/S0140-6736(95)91975-9","article-title":"1342 C mutation in Gaucher's disease","volume":"346","author":"Beutler","year":"1995","journal-title":"Lancet"},{"key":"10.1006\/bcmd.2001.0477_RF5","doi-asserted-by":"crossref","first-page":"1000","DOI":"10.1016\/S0140-6736(95)91688-1","article-title":"Gaucher's disease variant characterized by progressive calcification of heart valves and unique phenotype","volume":"346","author":"Abrahamov","year":"1995","journal-title":"Lancet"},{"key":"10.1006\/bcmd.2001.0477_RF6","doi-asserted-by":"crossref","first-page":"740","DOI":"10.1136\/jmg.32.9.740","article-title":"Unusual expression of Gaucher's disease: Cardiovascular calcifications in three sibs homozygous for the D409H mutation","volume":"32","author":"Chabas","year":"1995","journal-title":"J. Med. Genet."},{"key":"10.1006\/bcmd.2001.0477_RF7","doi-asserted-by":"crossref","first-page":"775","DOI":"10.1136\/jmg.35.9.775","article-title":"Recurrence of the D409H mutation in Spanish Gaucher disease patients: Description of a new homozygous patient and haplotype analysis","volume":"35","author":"Chabas","year":"1998","journal-title":"J. Med. Genet."},{"key":"10.1006\/bcmd.2001.0477_RF8","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1212\/WNL.54.1.261","article-title":"Gaucher disease with oculomotor apraxia and cardiovascular calcification","volume":"54","author":"Bohlega","year":"2000","journal-title":"Neurology"},{"key":"10.1006\/bcmd.2001.0477_RF9","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1034\/j.1399-0004.2001.590511.x","article-title":"Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation","volume":"59","author":"George","year":"2001","journal-title":"Clin. Genet."},{"key":"10.1006\/bcmd.2001.0477_RF10","doi-asserted-by":"crossref","first-page":"1288","DOI":"10.1172\/JCI117084","article-title":"Marked elevation of plasma chitotriosidase activity: A novel hallmark of Gaucher disease","volume":"93","author":"Hollak","year":"1994","journal-title":"J. Clin. Invest."},{"key":"10.1006\/bcmd.2001.0477_RF11","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1007\/BF02436006","article-title":"Characterization of glucocerebrosidase in Greek Gaucher disease patients: Mutation analysis and biochemical studies","volume":"18","author":"Michelakakis","year":"1995","journal-title":"J. Inher. Metab. Dis."},{"key":"10.1006\/bcmd.2001.0477_RF12","first-page":"219","article-title":"Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease","volume":"1317","author":"Michelakakis","year":"1996","journal-title":"Biochem. Biophys. Acta"},{"key":"10.1006\/bcmd.2001.0477_RF13","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1002\/(SICI)1098-1004(1997)10:5<348::AID-HUMU3>3.0.CO;2-B","article-title":"Glucocerebrosidase genotype of Gaucher patients in The Netherlands: Limitations in prognostic value","volume":"10","author":"Boot","year":"1997","journal-title":"Hum. Mutat."},{"key":"10.1006\/bcmd.2001.0477_RF14","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1002\/ana.410420412","article-title":"Prospective study of neurological responses to treatment with macrophage targeted glucocerebrosidase in patients with type 3 Gaucher's disease","volume":"42","author":"Schiffmann","year":"1997","journal-title":"Ann. Neurol."},{"key":"10.1006\/bcmd.2001.0477_RF15","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1007\/BF01799179","article-title":"Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain","volume":"19","author":"Chabas","year":"1996","journal-title":"J. Inher. Metab. Dis."},{"key":"10.1006\/bcmd.2001.0477_RF16","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1023\/A:1010319001722","article-title":"The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders","volume":"24","author":"Gregersen","year":"2001","journal-title":"J. Inher. Metab. Dis."},{"key":"10.1006\/bcmd.2001.0477_RF17","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1006\/bmme.1996.0077","article-title":"The glucocerebrosidase D409H mutation in Gaucher disease","volume":"59","author":"Pasmanik-Chor","year":"1996","journal-title":"Biochem. Mol. Med."}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979601904772?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979601904772?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:19:19Z","timestamp":1761049159000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979601904772"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["S1079979601904772"],"URL":"https:\/\/doi.org\/10.1006\/bcmd.2001.0477","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2002,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Early-Onset Severe Neurological Involvement and D409H Homozygosity in Gaucher Disease: Outcome of Enzyme Replacement Therapy","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1006\/bcmd.2001.0477","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"converted-article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2002 Elsevier Science (USA). All rights reserved.","name":"copyright","label":"Copyright"}]}}