{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T02:18:42Z","timestamp":1773800322192,"version":"3.50.1"},"reference-count":37,"publisher":"Elsevier BV","issue":"1-2","license":[{"start":{"date-parts":[[2012,9,1]],"date-time":"2012-09-01T00:00:00Z","timestamp":1346457600000},"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":[[2012,9]]},"DOI":"10.1016\/j.ymgme.2012.05.011","type":"journal-article","created":{"date-parts":[[2012,5,29]],"date-time":"2012-05-29T06:47:02Z","timestamp":1338274022000},"page":"197-202","source":"Crossref","is-referenced-by-count":46,"title":["Enzyme replacement therapy improves cardiac features and severity of Fabry disease"],"prefix":"10.1016","volume":"107","author":[{"given":"Manish","family":"Motwani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanjay","family":"Banypersad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Woolfson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Waldek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgme.2012.05.011_bb0005","doi-asserted-by":"crossref","first-page":"338","DOI":"10.7326\/0003-4819-138-4-200302180-00014","article-title":"Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy","volume":"138","author":"Desnick","year":"2003","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0010","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0015","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.ymgme.2012.05.011_bb0020","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","article-title":"Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey","volume":"28","author":"Linhart","year":"2007","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0025","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1093\/eurheartj\/ehp426","article-title":"Aortic remodelling in Fabry disease","volume":"31","author":"Barbey","year":"2010","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0030","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1136\/hrt.2010.211789","article-title":"Electrocardiographic changes in early recognition of Fabry disease","volume":"97","author":"Namdar","year":"2011","journal-title":"Heart"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0035","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","article-title":"New insights in cardiac structural changes in patients with Fabry's disease","volume":"139","author":"Linhart","year":"2000","journal-title":"Am. Heart J."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0040","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.amjcard.2009.10.056","article-title":"PQ interval in patients with Fabry disease","volume":"105","author":"Namdar","year":"2010","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0045","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/0002-9149(94)90106-6","article-title":"Electrophysiologic findings in Fabry's disease with a short PR interval","volume":"74","author":"Pochis","year":"1994","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0050","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/eurheartj\/ehi143","article-title":"The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease","volume":"26","author":"Weidemann","year":"2005","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0055","doi-asserted-by":"crossref","first-page":"1933","DOI":"10.1046\/j.1523-1755.2002.00675.x","article-title":"Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy","volume":"62","author":"Thurberg","year":"2002","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0060","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human-galactosidase A replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Eng. J. Med."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0065","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0070","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","article-title":"Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study","volume":"108","author":"Weidemann","year":"2003","journal-title":"Circulation"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0075","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1399-0004.2004.00284.x","article-title":"Enzyme replacement therapy with agalsidase improves cardiac involvement in Fabry's disease","volume":"66","author":"Spinelli","year":"2004","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0080","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1136\/hrt.2008.162800","article-title":"Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study","volume":"95","author":"Imbriaco","year":"2009","journal-title":"Heart"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0085","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1016\/S0140-6736(09)61493-8","article-title":"Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data","volume":"374","author":"Mehta","year":"2009","journal-title":"Lancet"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0090","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1093\/ejechocard\/jen129","article-title":"Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy","volume":"9","author":"Kovacevic-Preradovic","year":"2008","journal-title":"Eur. J. Echocardiogr."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0095","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1007\/s10545-008-0848-3","article-title":"Twenty-four-month alpha-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters","volume":"31","author":"Koskenvuo","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0100","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann. Intern. Med."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0105","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1016\/0002-8703(68)90035-5","article-title":"A point-score system for the ECG diagnosis of left ventricular hypertrophy","volume":"75","author":"Romhilt","year":"1968","journal-title":"Am. Heart J."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0110","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/0735-1097(95)00122-G","article-title":"Dispersion of QT interval in patients with and without susceptibility to ventricular tachyarrhythmias after previous myocardial infarction","volume":"26","author":"Perki\u00f6m\u00e4ki","year":"1995","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0115","doi-asserted-by":"crossref","first-page":"14B","DOI":"10.1016\/0002-9149(93)90034-A","article-title":"How to measure the QT interval\u2014what is normal?","volume":"72","author":"Garson","year":"1993","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0120","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1016\/0002-9149(76)90491-4","article-title":"Problems in echocardiographic volume determinations: echocardiographic-angiographic correlations in the presence or absence of asynergy","volume":"37","author":"Teichholz","year":"1976","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0125","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/0002-9149(86)90771-X","article-title":"Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings","volume":"57","author":"Devereux","year":"1986","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0130","doi-asserted-by":"crossref","first-page":"956","DOI":"10.1016\/0002-9149(87)91133-7","article-title":"Echocardiographic criteria for left ventricular hypertrophy: the Framingham Heart Study","volume":"59","author":"Levy","year":"1987","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0135","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1161\/01.CIR.58.6.1072","article-title":"Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements","volume":"58","author":"Sahn","year":"1978","journal-title":"Circulation"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0140","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","article-title":"The Mainz Severity Score Index: a new instrument for quantifying the Anderson\u2010Fabry disease phenotype, and the response of patients to enzyme replacement therapy","volume":"65","author":"Whybra","year":"2004","journal-title":"Clin. Genet."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0145","series-title":"Fabry Disease: Perspectives from 5Years of FOS","first-page":"315","article-title":"Measurement of disease severity and progression in Fabry disease","author":"Whybra","year":"2006"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0150","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/08035320510031045","article-title":"Genotype and phenotype in Fabry disease: analysis of the Fabry outcome survey","volume":"94","author":"Schaefer","year":"2005","journal-title":"Acta Paediatr. Suppl."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0155","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0160","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1111\/j.1365-2362.2004.01424.x","article-title":"Fabry disease: overall effects of agalsidase alfa treatment","volume":"34","author":"Beck","year":"2004","journal-title":"Eur. J. Clin. Invest."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0165","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/sj.ki.5000208","article-title":"Clinical benefit of enzyme replacement therapy in Fabry disease","volume":"69","author":"Breunig","year":"2006","journal-title":"Kidney Int."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0170","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1161\/01.ATV.0000209649.60409.38","article-title":"Cardiac and vascular hypertrophy in Fabry disease","volume":"26","author":"Barbey","year":"2006","journal-title":"Arterioscler. Thromb. Vasc. Biol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0175","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.amjcard.2005.05.033","article-title":"Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease","volume":"96","author":"Shah","year":"2005","journal-title":"Am. J. Cardiol."},{"key":"10.1016\/j.ymgme.2012.05.011_bb0180","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1161\/CIRCULATIONAHA.107.726752","article-title":"Reversibility of PRKAG2 glycogen-storage cardiomyopathy and electrophysiological manifestations","volume":"117","author":"Wolf","year":"2008","journal-title":"Circulation"},{"key":"10.1016\/j.ymgme.2012.05.011_bb0185","doi-asserted-by":"crossref","first-page":"1391","DOI":"10.1161\/01.CIR.63.6.1391","article-title":"Left ventricular hypertrophy: relationship of anatomic, echocardiographic and electrocardiographic findings","volume":"63","author":"Reichek","year":"1981","journal-title":"Circulation"}],"container-title":["Molecular Genetics and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212002004?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1096719212002004?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,22]],"date-time":"2018-11-22T23:50:30Z","timestamp":1542930630000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1096719212002004"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9]]},"references-count":37,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[2012,9]]}},"alternative-id":["S1096719212002004"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgme.2012.05.011","relation":{},"ISSN":["1096-7192"],"issn-type":[{"value":"1096-7192","type":"print"}],"subject":[],"published":{"date-parts":[[2012,9]]}}}