{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T14:50:49Z","timestamp":1774536649783,"version":"3.50.1"},"reference-count":20,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Medicina Cl\u00ednica"],"published-print":{"date-parts":[[2018,9]]},"DOI":"10.1016\/j.medcli.2018.01.025","type":"journal-article","created":{"date-parts":[[2018,3,6]],"date-time":"2018-03-06T08:49:27Z","timestamp":1520326167000},"page":"196-197","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Aspectos actuales de la enfermedad de Fabry"],"prefix":"10.1016","volume":"151","author":[{"given":"Jos\u00e9-Vicente","family":"Torregrosa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.medcli.2018.01.025_bib0105","unstructured":"Online Mendelian Inheritance in Man. Fabry disease (301500). [consultado 26 Sep 2017]. Disponible en: http:\/\/www.omim.org\/entry\/301500?-search=301500&highlight=301500"},{"key":"10.1016\/j.medcli.2018.01.025_bib0110","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: Clinical manifestations and impact of disease in a cohort of 98 hemizygous males","volume":"38","author":"MacDermot","year":"2001","journal-title":"J Med Genet"},{"key":"10.1016\/j.medcli.2018.01.025_bib0115","series-title":"Fabry disease: Perspectives from 5 years of FOS.","article-title":"Epidemiology of lysosomal storage diseases: An overview","author":"Fuller","year":"2006"},{"key":"10.1016\/j.medcli.2018.01.025_bib0120","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.medcli.2018.01.025_bib0125","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1016\/j.nefro.2016.03.009","article-title":"PrEFiNe Plan: Strategic plan for Fabry diseases in nephrology","volume":"36","author":"Del Pino","year":"2016","journal-title":"Nefrologia."},{"key":"10.1016\/j.medcli.2018.01.025_bib0130","series-title":"The metabolic and molecular bases of inherited disease","first-page":"3733","article-title":"\u03b1-galactosidase alactosidase a deficiency: Fabry disease","author":"Desnick","year":"2001"},{"key":"10.1016\/j.medcli.2018.01.025_bib0135","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur J Clin Invest"},{"key":"10.1016\/j.medcli.2018.01.025_bib0140","first-page":"257628","article-title":"Copious podocyturia without proteinuria and with normal renal function in a young adult with Fabry disease","volume":"2015","author":"Trimarchi","year":"2015","journal-title":"Case Rep Nephrol."},{"key":"10.1016\/j.medcli.2018.01.025_bib0145","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.bbadis.2011.11.001","article-title":"Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy","volume":"1822","author":"Biancini","year":"2012","journal-title":"Biochim Biophys Acta."},{"key":"10.1016\/j.medcli.2018.01.025_bib0150","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/1750-1172-8-116","article-title":"Fibrosis: A key feature of Fabry disease with potential therapeutic implications","volume":"8","author":"Weidemann","year":"2013","journal-title":"Orphanet J Rare Dis."},{"key":"10.1016\/j.medcli.2018.01.025_bib0155","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1007\/s00401-007-0296-4","article-title":"Immune system irregularities in lysosomal storage disorders","volume":"115","author":"Castaneda JA1","year":"2008","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.medcli.2018.01.025_bib0160","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","article-title":"The molecular defect leading to Fabry disease: Structure of human \u03b1-galactosidase","volume":"337","author":"Garman","year":"2004","journal-title":"J Mol Biol"},{"key":"10.1016\/j.medcli.2018.01.025_bib0165","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1007\/s10545-011-9308-6","article-title":"Biomarkers in the diagnosis of lysosomal storage disorders: Proteins, lipids, and inhibodies","volume":"34","author":"Aerts","year":"2011","journal-title":"J Inherit Metab Dis."},{"key":"10.1016\/j.medcli.2018.01.025_bib0170","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10545-006-0484-8","article-title":"The Dutch Fabry cohort: Diversity of clinical manifestations and Gb3 levels","volume":"30","author":"Vedder","year":"2007","journal-title":"J Inherit Metab Dis."},{"key":"10.1016\/j.medcli.2018.01.025_bib0175","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1136\/jmedgenet-2014-102872","article-title":"Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease","volume":"52","author":"Smid","year":"2015","journal-title":"J Med Genet."},{"key":"10.1016\/j.medcli.2018.01.025_bib0180","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13023-015-0253-6","article-title":"Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document","volume":"10","author":"Biegstraaten","year":"2015","journal-title":"Orphanet J Rare Dis."},{"key":"10.1016\/j.medcli.2018.01.025_bib0185","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J Med Genet."},{"key":"10.1016\/j.medcli.2018.01.025_bib0190","unstructured":"[consultado 25 Mar 2017]. Disponible en: www.ema.europa.eu\/docs\/es_ES\/document_library\/..\/WC500053612.pdf"},{"key":"10.1016\/j.medcli.2018.01.025_bib0195","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1093\/glycob\/cwg034","article-title":"A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease","volume":"13","author":"Lee","year":"2003","journal-title":"Glycobiology."},{"key":"10.1016\/j.medcli.2018.01.025_bib0200","first-page":"CD006663","article-title":"Enzyme replacement therapy for Anderson-Fabry disease","volume":"7","author":"El Dib","year":"2016","journal-title":"Cochrane Database Syst Rev."}],"container-title":["Medicina Cl\u00ednica"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002577531830085X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S002577531830085X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,25]],"date-time":"2018-10-25T12:25:40Z","timestamp":1540470340000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S002577531830085X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,9]]}},"alternative-id":["S002577531830085X"],"URL":"https:\/\/doi.org\/10.1016\/j.medcli.2018.01.025","relation":{},"ISSN":["0025-7753"],"issn-type":[{"value":"0025-7753","type":"print"}],"subject":[],"published":{"date-parts":[[2018,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aspectos actuales de la enfermedad de Fabry","name":"articletitle","label":"Article Title"},{"value":"Medicina Cl\u00ednica","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.medcli.2018.01.025","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Espa\u00f1a, S.L.U. All rights reserved.","name":"copyright","label":"Copyright"}]}}