{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,14]],"date-time":"2026-08-14T15:58:20Z","timestamp":1786723100635,"version":"build-2736575974"},"reference-count":25,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nephron"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Fabry disease (FD) is a lysosomal storage disorder caused by enzyme \u03b1 galactosidase A (\u03b1-Gal A) deficiency due to mutations in the galactosidase alpha (GLA) gene. It leads to damage several organs, such as the kidneys, due to progressive accumulation of glycosphingolipids. &lt;b&gt;&lt;i&gt;Objective:&lt;\/i&gt;&lt;\/b&gt; To estimate the prevalence of FD among male hemodialysis (HD) patients in a northern state of Brazil. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Screening was performed using a dried blood spot on filter paper to identify patients with low \u03b1-Gal A enzyme activity (\u22642.2 \u00b5mol\/l\/h). Those with low enzyme activity underwent genetic analysis of the GLA gene. Family screening was conducted in the index cases. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; 2,583 male HD patients (age: 52 (18-91 years)) were screened. The \u03b1-Gal A assay identified 72 males (2.78%) with low enzyme activity. Genotyping identified 3 patients with GLA mutations: W204X, A368T, both previously reported; and C52F, a novel missense mutation. Only the patient with W204X mutation had classic FD. The prevalence rate was 0.12%. Family screening of the index cases identified 23 family members with the same mutations. &lt;b&gt;&lt;i&gt;Conclusions:&lt;\/i&gt;&lt;\/b&gt; The prevalence of FD amongst male HD patients found in the Northern of Brazil was low (0.12%). However, family screening of the 3 index cases identified family members at an early stage of the disease, which may benefit from earlier treatment.<\/jats:p>","DOI":"10.1159\/000448740","type":"journal-article","created":{"date-parts":[[2016,8,30]],"date-time":"2016-08-30T21:10:43Z","timestamp":1472591443000},"page":"221-230","source":"Crossref","is-referenced-by-count":33,"title":["Targeted Screening of Fabry Disease in Male Hemodialysis Patients in Brazil Highlights Importance of Family Screening"],"prefix":"10.1159","volume":"134","author":[{"given":"Cassiano Augusto Braga","family":"Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fellype Carvalho","family":"Barreto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marlene Antonia","family":"dos Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Andrade","family":"Moura Junior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constan\u00e7a Margarida Sampaio","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2016,8,31]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012423924648"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.39.601"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2013.281053"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.08.007"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.11.063"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000124671.61963.1E"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfl528"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-013-0897-2"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1080\/08860220802353777"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00136-7"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_154"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfp105"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.5414\/CNP75506"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1159\/000250968"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.07.003"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.cccn.2004.10.019"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfm532"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs526"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.5414\/CN107097"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S66748"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1007\/s10897-007-9128-x"}],"container-title":["Nephron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448740","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448740","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/448740","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:06:13Z","timestamp":1745427973000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000448740"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":25,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2016,12,6]]}},"URL":"https:\/\/doi.org\/10.1159\/000448740","archive":["Portico"],"relation":{},"ISSN":["1660-8151","2235-3186"],"issn-type":[{"value":"1660-8151","type":"print"},{"value":"2235-3186","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}