{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:27:03Z","timestamp":1792146423552,"version":"4.4.0"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2003,10,1]],"date-time":"2003-10-01T00:00:00Z","timestamp":1064966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2003,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>Summary:<\/jats:bold>Fabry disease is an X\u2010linked glycosphingolipid storage disorder caused by a deficiency of \u03b1\u2010galactosidase A. Affected patients experience debilitating neuropathic pain and have premature mortality due to renal failure, cardiovascular disease or cerebrovascular complications. The disease may be X\u2010linked dominant, since most females heterozygous for Fabry disease are affected clinically. We evaluated the safety, efficacy and pharmacokinetics of agalsidase alfa (Replagal) administered intravenously to female patients with Fabry disease in an open\u2010label, single\u2010centre study. Fifteen severely affected patients received agalsidase alfa at 0.2 mg\/kg every other week for up to 55 weeks. Agalsidase alfa was safe and well\u2010tolerated in female patients. None of the patients developed antibodies or experienced an infusion reaction to agalsidase alfa. The pharmacokinetic profile of agalsidase alfa in female patients is comparable to the pharmacokinetics of agalsidase alfa in male patients. Mean urine sediment and plasma Gb3 levels decreased from baseline at 13, 27 and 41 weeks. A significant decrease in left ventricular mass from baseline was seen at weeks 27 (<jats:italic>p<\/jats:italic>= 0.003) and 41 (<jats:italic>p<\/jats:italic>= 0.039), and a significant reduction in QRS durations was seen at week 27 (<jats:italic>p<\/jats:italic>= 0.007). Furthermore, there was a significant improvement in quality of life. Renal function did not deteriorate in these 15 female patients over the 13\u2010 to 41\u2010week period of observation. We conclude that enzyme replacement therapy with agalsidase alfa was safe and effective in female patients heterozygous for Fabry disease.<\/jats:p>","DOI":"10.1023\/b:boli.0000005658.14563.77","type":"journal-article","created":{"date-parts":[[2003,12,1]],"date-time":"2003-12-01T18:29:34Z","timestamp":1070303374000},"page":"617-627","source":"Crossref","is-referenced-by-count":105,"title":["Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study"],"prefix":"10.1002","volume":"26","author":[{"given":"F.","family":"Baehner","sequence":"first","affiliation":[{"name":"Children's Hospital Johannes\u2010Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kampmann","sequence":"additional","affiliation":[{"name":"Children's Hospital Johannes\u2010Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Whybra","sequence":"additional","affiliation":[{"name":"Children's Hospital Johannes\u2010Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Miebach","sequence":"additional","affiliation":[{"name":"Children's Hospital Johannes\u2010Gutenberg University Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C. 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