{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:00:53Z","timestamp":1761102053827},"reference-count":24,"publisher":"Hindawi Limited","issue":"1","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":992,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2013,1]]},"DOI":"10.1111\/ijcp.12081","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T18:58:53Z","timestamp":1355425133000},"page":"66-72","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry Registry"],"prefix":"10.1155","volume":"67","author":[{"given":"J. M.","family":"Politei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Cabrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H.","family":"Amartino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Valdez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Masllorens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Ripeau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Antongiovanni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Soliani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Luna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cedrolla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Fernandez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Fainboim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"98","published-online":{"date-parts":[[2012,12,13]]},"reference":[{"key":"10.1111\/ijcp.12081-BIB1|cit1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","article-title":"Enzymatic defect in Fabry\u2032s disease. Ceramidetrihexosidase deficiency","volume":"276","author":"Brady","year":"1976","journal-title":"N Engl J Med"},{"key":"10.1111\/ijcp.12081-BIB2|cit2","first-page":"3733","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Desnick","year":"2001"},{"key":"10.1111\/ijcp.12081-BIB3|cit3","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1097\/01.ASN.0000015239.57436.18","article-title":"Anderson-Fabry disease: extrarenal, neurologic manifestations","volume":"13","author":"Kolodny","year":"2002","journal-title":"J Am Soc Nephrol"},{"key":"10.1111\/ijcp.12081-BIB4|cit4","first-page":"1249","article-title":"Prevalence of lysosomal disorders","volume":"28","author":"Meikle","year":"1999","journal-title":"JAMA"},{"key":"10.1111\/ijcp.12081-BIB5|cit5","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 Human Gen"},{"key":"10.1111\/ijcp.12081-BIB6|cit6","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum Mutat"},{"issue":"5 Suppl.","key":"10.1111\/ijcp.12081-BIB7|cit7","doi-asserted-by":"crossref","first-page":"S20","DOI":"10.1016\/j.jpeds.2004.01.051","article-title":"Fabry disease in childhood","volume":"144","author":"Desnick","year":"2004","journal-title":"J Pediatr"},{"key":"10.1111\/ijcp.12081-BIB8|cit8","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/j.1442-9071.2005.00990.x","article-title":"Ophthalmological manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre","volume":"33","author":"Nguyen","year":"2005","journal-title":"Clin Experiment Ophthalmol"},{"key":"10.1111\/ijcp.12081-BIB9|cit9","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.revmed.2005.12.006","article-title":"The cochlea in Fabry disease: a sensorineural hearing loss model of vascular origin?","volume":"27","author":"Malinvaud","year":"2006","journal-title":"Rev Med Interne"},{"key":"10.1111\/ijcp.12081-BIB10|cit10","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1097\/00005792-200203000-00003","article-title":"Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course","volume":"81","author":"Branton","year":"2002","journal-title":"Medicine (Baltimore)"},{"key":"10.1111\/ijcp.12081-BIB11|cit11","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry","volume":"11","author":"Waldek","year":"2009","journal-title":"Genet Med"},{"key":"10.1111\/ijcp.12081-BIB12|cit12","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":"10.1111\/ijcp.12081-BIB13|cit13","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1016\/j.jacc.2008.02.050","article-title":"Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results","volume":"27","author":"Linthorst","year":"2008","journal-title":"J Am Coll Cardiol"},{"key":"10.1111\/ijcp.12081-BIB14|cit14","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in Fabry disease: a randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"JAMA"},{"key":"10.1111\/ijcp.12081-BIB15|cit15","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human \u03b1-galactosidase A-replacement therapy in Fabry\u2032s disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"},{"key":"10.1111\/ijcp.12081-BIB16|cit16","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":"10.1111\/ijcp.12081-BIB17|cit17","doi-asserted-by":"crossref","first-page":"2220","DOI":"10.2215\/CJN.04340510","article-title":"Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry","volume":"5","author":"Wanner","year":"2010","journal-title":"Clin J Am Soc Nephrol"},{"key":"10.1111\/ijcp.12081-BIB18|cit18","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.jacc.2010.11.018","article-title":"Cardiovascular events in patients with Fabry disease: natural history data from the Fabry Registry","volume":"57","author":"Patel","year":"2011","journal-title":"J Am Coll Cardiol"},{"key":"10.1111\/ijcp.12081-BIB19|cit19","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1093\/ndt\/gfp554","article-title":"End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry","volume":"25","author":"Ortiz","year":"2010","journal-title":"Nephrol Dial Transplant"},{"key":"10.1111\/ijcp.12081-BIB20|cit20","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"},{"key":"10.1111\/ijcp.12081-BIB21|cit21","doi-asserted-by":"crossref","first-page":"1042","DOI":"10.1093\/ndt\/gfr420","article-title":"Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation","volume":"7","author":"Warnock","year":"2012","journal-title":"Nephrol Dial Transplant"},{"key":"10.1111\/ijcp.12081-BIB22|cit22","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: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann Intern Med"},{"key":"10.1111\/ijcp.12081-BIB23|cit23","doi-asserted-by":"crossref","first-page":"1323","DOI":"10.1097\/01.ASN.0000124671.61963.1E","article-title":"Results of a nationwide screening for Anderson-Fabry disease among dialysis patients","volume":"15","author":"Kotanko","year":"2004","journal-title":"J Am Soc Nephrol"},{"key":"10.1111\/ijcp.12081-BIB24|cit24","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1093\/ndt\/gfg194","article-title":"\u03b1-galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease","volume":"18","author":"Linthorst","year":"2003","journal-title":"Nephrol Dial Transplant"}],"container-title":["International Journal of Clinical Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fijcp.12081","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,1,28]],"date-time":"2022-01-28T06:06:25Z","timestamp":1643349985000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ijcp.12081"}},"subtitle":["Fabry Registry in Argentina"],"short-title":[],"issued":{"date-parts":[[2012,12,13]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2013,1]]}},"URL":"https:\/\/doi.org\/10.1111\/ijcp.12081","relation":{},"ISSN":["1368-5031"],"issn-type":[{"value":"1368-5031","type":"print"}],"subject":[],"published":{"date-parts":[[2012,12,13]]},"assertion":[{"value":"2012-12-13","name":"published_online","label":"Published Online","group":{"name":"publication_history","label":"Publication History"}}]}}