{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T10:52:38Z","timestamp":1769511158523,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,9,27]],"date-time":"2012-09-27T00:00:00Z","timestamp":1348704000000},"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":[[2013,5]]},"abstract":"<jats:p>Fabry disease is a rare, multiorgan disease. The most serious complications involve the kidney, brain and heart. This study aims to assess the effect of enzyme replacement therapy (<jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>) using agalsidase\u2010beta in children with Fabry disease. We carried out a nationwide, descriptive and observational retrospective cohort study of 10 children (9\u201316\u2009years at baseline), who underwent regular systematic investigations for 1\u20138\u2009years after initiation of <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content> with agalsidase\u2010beta (Fabryzyme\u00ae, Genzyme). Ophthalmological, echocardiographic abnormalities and hypohidrosis were found at baseline and during the follow\u2010up period. Serious kidney, heart or brain involvement had not developed at the last follow\u2010up examination. For the majority of the patients improvements were found concerning headache, acroparaesthesias and gastrointestinal pain during the follow\u2010up period. The level of energy and physical activity also increased. Treatment with agalsidase\u2010beta was associated with a reduction of neuropathic and abdominal pain and headache. Although all aspects of the Fabry pain phenotype cannot be treated with <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content>, the observed effects were clinically significant in the lives of the majority of Fabry children and together with the absence of serious Fabry manifestations at last follow\u2010up, we argue that early initiation of <jats:styled-content style=\"fixed-case\">ERT<\/jats:styled-content> may be considered.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01947.x","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T18:03:26Z","timestamp":1344276206000},"page":"432-438","source":"Crossref","is-referenced-by-count":46,"title":["Fabry disease in children: agalsidase\u2010beta enzyme replacement 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