{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:03:38Z","timestamp":1773007418359,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,4,20]],"date-time":"2015-04-20T00:00:00Z","timestamp":1429488000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:p>We describe the results of the multidisciplinary evaluation in patients with Fabry disease and the same genetic mutation and their outcomes using different approved enzyme replacement therapy (<jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>). We measured baseline data and serial results of neuropathic pain assessment and renal, cardiac and cerebrovascular functioning. Pain scale showed improvement in all male cases treated with agalsidasa beta. A mild improvement was detected in agalsidasa alfa\u2010treated patients after 1 year with posterior increase. During the agalsidase beta shortage, two male patients were switched to agalsidasa alfa, after 1 year both cases presented an increase in scale values. Renal evolution showed a tendency toward a decrease in proteinuria in patients using agalsidase beta and worsening with agalsidase alfa. We found improvement in two females using agalsidase beta and no changes in the other cases regarding cardiac functioning. Brain magnetic resonance imaging (<jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content>) showed increase of white matter lesions in four patients. Improvement and stabilization in neuropathic pain, renal and cardiac functioning and brain <jats:styled-content style=\"fixed-case\">MRI<\/jats:styled-content> were found mainly in patients treated with agalsidase beta. Following the reported recommendations on reintroduction of agalsidase beta after the enzyme shortage, we decided to switch all patients to agalsidase beta.<\/jats:p>","DOI":"10.1111\/cge.12590","type":"journal-article","created":{"date-parts":[[2015,3,27]],"date-time":"2015-03-27T00:05:38Z","timestamp":1427414738000},"page":"88-92","source":"Crossref","is-referenced-by-count":15,"title":["Fabry disease and enzyme replacement therapy in classic patients with same mutation: different formulations\u00a0\u2013\u00a0different outcome?"],"prefix":"10.1111","volume":"89","author":[{"given":"J.","family":"Politei","sequence":"first","affiliation":[{"name":"Laboratorio Neuroqu\u00edmica Dr Chamoles (FESEN)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.B.","family":"Schenone","sequence":"additional","affiliation":[{"name":"Laboratorio Neuroqu\u00edmica Dr Chamoles (FESEN)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Cabrera","sequence":"additional","affiliation":[{"name":"Cardiology Department Del Viso Medical Center  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Heguilen","sequence":"additional","affiliation":[{"name":"Department of Nephrology Juan Fernandez Hospital  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Szlago","sequence":"additional","affiliation":[{"name":"Laboratorio Neuroqu\u00edmica Dr Chamoles (FESEN)  Buenos Aires Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,20]]},"reference":[{"issue":"30","key":"e_1_2_7_2_1","first-page":"1750","article-title":"Fabry disease","volume":"5","author":"Germain DP","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/318809"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2005.10.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg963"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003632"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.21.2743"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2013060585"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000118207.84514.40"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_177"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.5414\/CNP69445"},{"issue":"4","key":"e_1_2_7_12_1","first-page":"823","article-title":"Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease","volume":"2","author":"Fervenza FC","year":"2008","journal-title":"Biologics"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2006111263"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.ajkd.2007.12.032"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012030316"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.108.794529"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000369293"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.39"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_160"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12590","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12590","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12590","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T03:07:41Z","timestamp":1694315261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,20]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1111\/cge.12590"],"URL":"https:\/\/doi.org\/10.1111\/cge.12590","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,20]]}}}