{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:51:24Z","timestamp":1787017884471,"version":"build-2736575974"},"reference-count":26,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2009,1,1]],"date-time":"2009-01-01T00:00:00Z","timestamp":1230768000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2009]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Fabry disease (FD) is a rare disease and one of the causes of progressive renal dysfunction. It results from an X-linked deficiency of \u03b1-galactosidase A activity. It has been reported that its prevalence is much higher in hemodialysis patients than in the general population. However, its prevalence in Japanese hemodialysis patients and cardiovascular manifestations remain unclear. &lt;i&gt;Methods:&lt;\/i&gt; We screened the \u03b1-galactosidase A activity of 1,024 Japanese hemodialysis patients using a dried blood spot test. Patients with a low \u03b1-galactosidase A activity were assessed clinically, and a genetic study of the \u03b1-galactosidase A gene was performed for these patients. Furthermore, patients with FD underwent detailed cardiovascular examination. &lt;i&gt;Results:&lt;\/i&gt; Forty-six patients had low \u03b1-galactosidase A activity, and 1 man and 2 women had \u03b1-galactosidase A mutations (0.29%). All of these patients had a previously identified mutation (E66Q). The result of detailed cardiovascular examination showed that 2 patients had significantly impaired coronary flow reserve, reduced myocardial contraction and relaxation tissue Doppler velocities, and left ventricular hypertrophy. &lt;i&gt;Conclusions:&lt;\/i&gt; Measurement of the \u03b1-galactosidase A activity and the results of a genetic analysis indicated that the prevalence of FD in our hemodialysis patients was 0.29% (0.16% in men and 0.5% in women). Furthermore, comprehensive examination detected cardiovascular abnormalities in Japanese hemodialysis patients with FD.<\/jats:p>","DOI":"10.1159\/000250968","type":"journal-article","created":{"date-parts":[[2009,10,21]],"date-time":"2009-10-21T09:05:16Z","timestamp":1256115916000},"page":"527-535","source":"Crossref","is-referenced-by-count":28,"title":["Prevalence and Cardiovascular Features of Japanese Hemodialysis Patients with Fabry Disease"],"prefix":"10.1159","volume":"30","author":[{"given":"Hideki","family":"Fujii","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiji","family":"Kono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shunsuke","family":"Goto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuari","family":"Onishi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroya","family":"Kawai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken-ichi","family":"Hirata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoko","family":"Hattori","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimitoshi","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fumio","family":"Endo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masafumi","family":"Fukagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2009,10,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000115398.92270.30"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.286.4.421"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1001%2Fjama.281.3.249"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10157-005-0369-4"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2Fgfg194"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1097%2F01.ASN.0000124671.61963.1E"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2003.00160.x"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2Fgfl528"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1046%2Fj.1523-1755.2002.00097.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fajh.2008.29"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.9520"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007%2FBF00207037"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2FS0140-6736%2805%2967635-0"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000012626.81324.38"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000139847.74101.03"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jacc.2007.06.062"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jacc.2005.11.070"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.2215%2FCJN.02490607"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1136%2Fhrt.2004.054015"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093%2Fndt%2Fgfm954"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1159%2F000087579"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000091253.71282.04"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1161%2F01.CIR.0000061952.27445.A0"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1212%2F01.wnl.0000338566.54190.8a"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1161%2FCIRCULATIONAHA.108.794529"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038%2Fsj.ki.5000208"}],"container-title":["American 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