{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:08:53Z","timestamp":1791493733833,"version":"4.3.4"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,5,6]],"date-time":"2013-05-06T00:00:00Z","timestamp":1367798400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Intern Med"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      The long\u2010term effects of enzyme\u2010replacement therapy (\n                      <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>\n                      ) in Fabry disease are unknown. Thus, the aim of this study was to determine whether\n                      <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>\n                      in patients with advanced Fabry disease affects progression towards \u2018hard\u2019 clinical end\u2010points in comparison with the natural course of the disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A total of 40 patients with genetically proven Fabry disease (mean age 40\u00a0\u00b1\u00a09\u00a0years;\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a09 women) were treated prospectively with\n                      <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>\n                      for 6\u00a0years. In addition, 40 subjects from the Fabry Registry, matched for age, sex, chronic kidney disease stage and previous transient ischaemic attack (\n                      <jats:styled-content style=\"fixed-case\">TIA<\/jats:styled-content>\n                      ), served as a comparison group. The main outcome was a composite of stroke, end\u2010stage renal disease (\n                      <jats:styled-content style=\"fixed-case\">ESRD<\/jats:styled-content>\n                      ) and death. Secondary outcomes included changes in myocardial left ventricular (\n                      <jats:styled-content style=\"fixed-case\">LV<\/jats:styled-content>\n                      ) wall thickness and replacement fibrosis, change in glomerular filtration rate (\n                      <jats:styled-content style=\"fixed-case\">GFR<\/jats:styled-content>\n                      ), new\n                      <jats:styled-content style=\"fixed-case\">TIA<\/jats:styled-content>\n                      and change in neuropathic pain.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      During a median follow\u2010up of 6.0\u00a0years (bottom and top quartiles: 5.1, 7.2), 15 events occurred in 13 patients (\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a07 deaths,\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04 cases of ESRD and\n                      <jats:italic>n<\/jats:italic>\n                      \u00a0=\u00a04 strokes). Sudden death occurred (\n                      <jats:italic>n\u00a0<\/jats:italic>\n                      =\u00a06) only in patients with documented ventricular tachycardia and myocardial replacement fibrosis. The annual progression of myocardial LV fibrosis in the entire cohort was 0.6\u00a0\u00b1\u00a00.7%. As a result, posterior end\u2010diastolic wall thinning was observed (baseline, 13.2\u00a0\u00b1\u00a02.0\u00a0mm; follow\u2010up, 11.4\u00a0\u00b1\u00a02.1\u00a0mm;\n                      <jats:italic>P\u00a0<\/jats:italic>\n                      &lt;\u00a00.01). GFR decreased by 2.3\u00a0\u00b1\u00a04.6\u00a0mL\u00a0min\n                      <jats:sup>\u22121<\/jats:sup>\n                      per year. Three patients experienced a TIA. The major clinical symptom was neuropathic pain (\n                      <jats:italic>n\u00a0<\/jats:italic>\n                      =\u00a037), and this symptom improved in 25 patients. The event rate was not different between the ERT group and the untreated (natural history) group of the Fabry Registry.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Despite\n                      <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>\n                      , clinically meaningful events including sudden cardiac death continue to develop in patients with advanced Fabry disease.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/joim.12077","type":"journal-article","created":{"date-parts":[[2013,4,16]],"date-time":"2013-04-16T01:56:41Z","timestamp":1366077401000},"page":"331-341","source":"Crossref","is-referenced-by-count":203,"title":["Long\u2010term outcome of enzyme\u2010replacement therapy in advanced\n                    <scp>F<\/scp>\n                    abry disease: evidence for disease progression towards serious complications"],"prefix":"10.1111","volume":"274","author":[{"given":"F.","family":"Weidemann","sequence":"first","affiliation":[{"name":"Department of Medicine, Divisions of Cardiology and Nephrology University of W\u00fcrzburg W\u00fcrzburg Germany"},{"name":"Comprehensive Heart Failure Center, University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Niemann","sequence":"additional","affiliation":[{"name":"Department of Medicine, Divisions of Cardiology and Nephrology University of W\u00fcrzburg W\u00fcrzburg Germany"},{"name":"Comprehensive Heart Failure Center, University of W\u00fcrzburg W\u00fcrzburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"St\u00f6rk","sequence":"additional","affiliation":[{"name":"Department of Medicine, Divisions of Cardiology and Nephrology University of W\u00fcrzburg W\u00fcrzburg 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