{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,18]],"date-time":"2023-09-18T02:35:28Z","timestamp":1695004528916},"reference-count":10,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2009,2,1]],"date-time":"2009-02-01T00:00:00Z","timestamp":1233446400000},"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":[[2009,2]]},"DOI":"10.1016\/j.ymgme.2008.10.015","type":"journal-article","created":{"date-parts":[[2008,12,11]],"date-time":"2008-12-11T12:54:24Z","timestamp":1229000064000},"page":"53-54","source":"Crossref","is-referenced-by-count":3,"title":["A new surrogate marker for CNS pathology in Niemann\u2013Pick disease type C?"],"prefix":"10.1016","volume":"96","author":[{"given":"Frances M.","family":"Platt","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin H.","family":"Lachmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2008.10.015_bib1","doi-asserted-by":"crossref","unstructured":"F.M. Platt, R.H. Lachmann, Treating lysosomal storage disorders: current practice and future prospects, Biochim. Biophys. Acta (2008).","DOI":"10.1016\/j.bbamcr.2008.08.009"},{"key":"10.1016\/j.ymgme.2008.10.015_bib2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1080\/08035320600619039","article-title":"Gaucher disease: multiple lessons from a single gene disorder","volume":"95","author":"Beutler","year":"2006","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2008.10.015_bib3","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1080\/08035320510028094","article-title":"Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases","volume":"94","author":"Aerts","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2008.10.015_bib4","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/S0074-7696(06)52001-7","article-title":"The biology of the Gaucher cell: the cradle of human chitinases","volume":"252","author":"Bussink","year":"2006","journal-title":"Int. Rev. Cytol."},{"key":"10.1016\/j.ymgme.2008.10.015_bib5","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1651-2227.2007.00641.x","article-title":"Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease","volume":"97","author":"Aerts","year":"2008","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2008.10.015_bib6","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nrn1725","article-title":"Storage solutions: treating lysosomal disorders of the brain","volume":"6","author":"Jeyakumar","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.ymgme.2008.10.015_bib7","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1016\/S0960-9822(01)00396-7","article-title":"Critical role for glycosphingolipids in Niemann\u2013Pick disease type C","volume":"11","author":"Zervas","year":"2001","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ymgme.2008.10.015_bib8","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S1474-4422(07)70194-1","article-title":"Miglustat for treatment of Niemann\u2013Pick C disease: a randomised controlled study","volume":"6","author":"Patterson","year":"2007","journal-title":"Lancet Neurol."},{"issue":"Suppl. 1","key":"10.1016\/j.ymgme.2008.10.015_bib9","first-page":"347","article-title":"Miglustat in Gaucher disease type 3","volume":"15","author":"Vellodi","year":"2007","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgme.2008.10.015_bib10","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.ymgme.2008.10.002","article-title":"24 month-treatment with miglustat of three patients with Niemann\u2013Pick disease type C: Follow up using brain spectroscopy","volume":"96","author":"Galanaud","year":"2009","journal-title":"Mol. Genet. Metab."}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208002655?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719208002655?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,5,22]],"date-time":"2023-05-22T21:25:14Z","timestamp":1684790714000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719208002655"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,2]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2009,2]]}},"alternative-id":["S1096719208002655"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2008.10.015","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2009,2]]}}}