{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T00:31:42Z","timestamp":1768264302674,"version":"3.49.0"},"reference-count":17,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007343","name":"Shire","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007343","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","msard-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Multiple Sclerosis and Related Disorders"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1016\/j.msard.2019.101466","type":"journal-article","created":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T19:59:15Z","timestamp":1571860755000},"page":"101466","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson\u2013Fabry's disease"],"prefix":"10.1016","volume":"38","author":[{"given":"Susana","family":"Olivera","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"I\u00f1iguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorena","family":"Garc\u00eda-Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9-Luis","family":"Sierra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana-Mar\u00eda","family":"Cam\u00f3n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebasti\u00e1n","family":"Menao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel-\u00c1ngel","family":"Torralba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.msard.2019.101466_bib0001","doi-asserted-by":"crossref","first-page":"2812","DOI":"10.1073\/pnas.0712309105","article-title":"Elevated Globotriaosylsphingosine is a hallmark of Fabry disease","volume":"105","author":"Aerts","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.msard.2019.101466_bib0002","doi-asserted-by":"crossref","first-page":"e71894","DOI":"10.1371\/journal.pone.0071894","article-title":"Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?","volume":"8","author":"B\u00f6ttcher","year":"2013","journal-title":"PLoS ONE"},{"key":"10.1016\/j.msard.2019.101466_bib0003","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry\u00b4s disease: ceramidetrihexesidase deficiency","volume":"276","author":"Brady","year":"1967","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.msard.2019.101466_bib0004","first-page":"27","article-title":"Fabry\u2019s disease as a differential diagnosis of MS","volume":"13","author":"Callegaro","year":"2006","journal-title":"Int. MS J."},{"key":"10.1016\/j.msard.2019.101466_bib0005","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/S0009-8981(01)00478-8","article-title":"Fabry disease: enzymatic diagnosis in dried blood spots on filter paper","volume":"308","author":"Chamoles","year":"2001","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.msard.2019.101466_bib0006","doi-asserted-by":"crossref","first-page":"e3726","DOI":"10.3390\/ijms19123726","article-title":"Mutations in the GLA Gene and Lysogb3. It is really Anderson-Fabry disease?","volume":"19","author":"Duro","year":"2018","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.msard.2019.101466_bib0007","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1212\/01.wnl.0000338566.54190.8a","article-title":"Diagnostic utility of different MRI and MR angiography measures in Fabry disease","volume":"72","author":"Fellgiebel","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.msard.2019.101466_bib0008","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet. J. Rare. Dis."},{"key":"10.1016\/j.msard.2019.101466_bib0009","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1177\/1352458508092355","article-title":"A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?","volume":"14","author":"Invernizzi","year":"2008","journal-title":"Mult. Scler."},{"key":"10.1016\/j.msard.2019.101466_bib0010","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.ymgme.2017.06.006","article-title":"Correlation of Lysogb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease","volume":"121","author":"Nowak","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.msard.2019.101466_bib0011","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.ymgme.2016.10.006","article-title":"Plasma Lysogb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes","volume":"120","author":"Nowak","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.msard.2019.101466_bib0012","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1002\/ana.20703","article-title":"Diagnostic criteria for multiple sclerosis: 2005 revisions to the \u201cMcDonald Criteria\u201d","volume":"58","author":"Polman","year":"2005","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.msard.2019.101466_bib0013","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1477-7525-10-116","article-title":"Measuring patient experiences in Fabry disease: validation of the Fabry-Specific Pediatric Health and Pain Questionnaire (FPHPQ)","volume":"10","author":"Ramaswami","year":"2012","journal-title":"Health Qual. Life Outcomes"},{"key":"10.1016\/j.msard.2019.101466_bib0014","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1016\/j.bbadis.2010.05.003","article-title":"Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease","volume":"1802","author":"Rombach","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.msard.2019.101466_bib0015","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.clineuro.2006.12.006","article-title":"Fabry disease mimicking multiple sclerosis","volume":"109","author":"Saip","year":"2007","journal-title":"Clin. Neurol. Neurosurg."},{"key":"10.1016\/j.msard.2019.101466_bib0016","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.ijcard.2014.09.001","article-title":"Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance","volume":"177","author":"Smid","year":"2014","journal-title":"Int. J. Cardiol."},{"key":"10.1016\/j.msard.2019.101466_bib0017","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1097\/GIM.0b013e3181f13a4a","article-title":"Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry registry","volume":"12","author":"Watt","year":"2010","journal-title":"Genet. Med."}],"container-title":["Multiple Sclerosis and Related Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034819304559?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2211034819304559?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T08:47:29Z","timestamp":1761900449000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2211034819304559"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":17,"alternative-id":["S2211034819304559"],"URL":"https:\/\/doi.org\/10.1016\/j.msard.2019.101466","relation":{},"ISSN":["2211-0348"],"issn-type":[{"value":"2211-0348","type":"print"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson\u2013Fabry's disease","name":"articletitle","label":"Article Title"},{"value":"Multiple Sclerosis and Related Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.msard.2019.101466","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"101466"}}