{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T13:52:31Z","timestamp":1793109151652,"version":"4.5.0"},"reference-count":30,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Fabry disease is a rare X-linked lysosomal storage disorder characterised by severe multisystemic involvement that leads to major organ failure and premature death in affected men and women. Over the past 7 years, the Fabry Outcome Survey (FOS) has collected data on the natural history of Fabry disease, and the long-term efficacy and safety of enzyme-replacement therapy. This paper provides an update on the first analysis of FOS data.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design:<\/jats:title>\n                    <jats:p>Baseline data on clinical manifestations and causes of death in a cohort of 1453 patients (699 male, 754 female) from 19 countries worldwide were analysed. Causes of death of affected relatives were analysed separately.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>The most frequently reported signs and symptoms of Fabry disease were neurological. Cardiac, ocular, gastrointestinal, dermatological, auditory and renal manifestations were also common. The principal causes of death among 181 affected relatives of patients in FOS (most of whom had died before 2001) were renal failure in males (42%) and cerebrovascular disease in females (25%). In contrast, of the 42 patients enrolled in FOS whose deaths were reported between 2001 and 2007, cardiac disease was the main cause of death in both male (34%) and female (57%) patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>These data suggest that the importance of renal disease as a cause of death in patients with Fabry disease is decreasing while the importance of cardiac disease is increasing. This pattern probably reflects improvements in the management of renal disease in patients with Fabry disease.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2008.065904","type":"journal-article","created":{"date-parts":[[2009,5,27]],"date-time":"2009-05-27T20:23:06Z","timestamp":1243455786000},"page":"548-552","source":"Crossref","is-referenced-by-count":278,"title":["Natural course of Fabry disease: changing pattern of causes of death in FOS \u2013 Fabry Outcome Survey"],"prefix":"10.1136","volume":"46","author":[{"given":"A","family":"Mehta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J T R","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Giugliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Elliott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Linhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Beck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Sunder-Plassmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,5,26]]},"reference":[{"key":"2025101713170970000_46.8.548.1","unstructured":"Desnick RJ Ioannou YA Eng CM . \u03b1-Galactosidase A deficiency: Fabry disease. In: Scriver C R Beaudet A L Sly W S Valle D , eds. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw\u2013Hill, 2001:3733\u201374."},{"key":"2025101713170970000_46.8.548.2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"2025101713170970000_46.8.548.3","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"2025101713170970000_46.8.548.4","doi-asserted-by":"crossref","first-page":"412","DOI":"10.1002\/humu.9327","article-title":"Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.","volume":"25","author":"Schafer","year":"2005","journal-title":"Hum Mutat"},{"key":"2025101713170970000_46.8.548.5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"2025101713170970000_46.8.548.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036327"},{"key":"2025101713170970000_46.8.548.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2007.09.013"},{"key":"2025101713170970000_46.8.548.8","doi-asserted-by":"publisher","DOI":"10.1097\/00005792-200203000-00003"},{"key":"2025101713170970000_46.8.548.9","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm153"},{"key":"2025101713170970000_46.8.548.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"2025101713170970000_46.8.548.11","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a23bec"},{"key":"2025101713170970000_46.8.548.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"2025101713170970000_46.8.548.13","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"2025101713170970000_46.8.548.14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200107053450102"},{"key":"2025101713170970000_46.8.548.15","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1111\/j.1651-2227.2007.00029.x","article-title":"Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.","volume":"96","author":"Ramaswami","year":"2007","journal-title":"Acta Paediatr"},{"key":"2025101713170970000_46.8.548.16","doi-asserted-by":"crossref","unstructured":"Wraith JE Tylki-Szymanska A Guffon N Lien YH Tsimaratos M Vellodi A Germain DP . Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 2008;152:563\u201370, 570 e1.","DOI":"10.1016\/j.jpeds.2007.09.007"},{"key":"2025101713170970000_46.8.548.17","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000237866.70357.c6"},{"key":"2025101713170970000_46.8.548.18","unstructured":"Whybra C Baehner F Baron K . Measurement of disease severity and progression in Fabry disease. In: Mehta A Beck M Sunder-Plassmann G , eds. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis Ltd, 2006:315\u201322."},{"key":"2025101713170970000_46.8.548.19","doi-asserted-by":"crossref","unstructured":"Schiffmann R Warnock DG Banikazemi M Bultas J Linthorst GE Packman S Sorensen SA Wilcox WR Desnick RJ . Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant 2009; 24:2102\u201311.","DOI":"10.1093\/ndt\/gfp031"},{"key":"2025101713170970000_46.8.548.20","unstructured":"Allender S Scarborough P Peto V Rayner M Leal J Luengo-Fernandez R Gray A . European cardiovascular disease statistics. Brussels: European Heart Network, 2008."},{"key":"2025101713170970000_46.8.548.21","first-page":"77","article-title":"Enzyme replacement therapy and renal function in 201 patients with Fabry disease.","volume":"66","author":"Schwarting","year":"2006","journal-title":"Clin Nephrol"},{"key":"2025101713170970000_46.8.548.22","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006080816"},{"key":"2025101713170970000_46.8.548.23","doi-asserted-by":"publisher","DOI":"10.1159\/000168482"},{"key":"2025101713170970000_46.8.548.24","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008080870"},{"key":"2025101713170970000_46.8.548.25","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneph0806"},{"key":"2025101713170970000_46.8.548.26","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2006.104026"},{"key":"2025101713170970000_46.8.548.27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00284.x"},{"key":"2025101713170970000_46.8.548.28","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000091253.71282.04"},{"key":"2025101713170970000_46.8.548.29","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000012626.81324.38"},{"key":"2025101713170970000_46.8.548.30","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-6-200703200-00007"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.065904","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:17:18Z","timestamp":1760732238000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.065904"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,26]]},"references-count":30,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2009,7,31]]},"published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1136\/jmg.2008.065904"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.065904","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,26]]}}}