{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T19:27:47Z","timestamp":1765826867634},"reference-count":36,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,1,26]],"date-time":"2009-01-26T00:00:00Z","timestamp":1232928000000},"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":[[2009,4]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fabry disease is a complex, multisystemic and clinically heterogeneous disease with prominent urinary excretion of globotriaosylceramide (Gb<jats:sub>3<\/jats:sub>), the principal substrate of the deficient enzyme, \u03b1\u2010galactosidase A. Some measure of specific treatment is possible with enzyme replacement therapy, which can be applied safely and effectively to Fabry patients. Incidence estimations of Fabry disease vary widely from 1:55 000 to 1:3000 male births. The true incidence is likely to be higher than originally thought, owing to the existence of milder variants of the disease. The main complications of Fabry disease are a 100\u2010fold increased risk of ischaemic stroke, cardiac disease, a wide variety of arrhythmias, valvular dysfunction and cardiac vascular disease, as well as progressive renal failure usually associated with significant proteinuria. These clinical manifestations are non\u2010specific and are often mistaken for symptoms of other disorders, thus complicating the confirmation of diagnosis. Other clinical features of the disease are often absent (angiokeratoma), subtle (corneal opacities and hypohidrosis), or unaccompanied by specific physical findings (acroparaesthesias) indicating the true nature of the underlying disease. We propose the hypothesis that \u03b1\u2010galactosidase A deficiency is a modifiable cardiovascular risk factor in the general population. This hypothesis may be tested by a non\u2010invasive high\u2010risk screening protocol for Fabry patients with ischaemic strokes and a variety of cardiac, and renal complications. These patients would benefit from diagnosis, appropriate treatment, follow\u2010up and surveillance. Early detection of Fabry patients would also benefit affected relatives, many of whom do not have a clear diagnosis of their clinical condition.<\/jats:p>","DOI":"10.1007\/s10545-009-1055-6","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T21:42:25Z","timestamp":1232746945000},"page":"303-308","source":"Crossref","is-referenced-by-count":24,"title":["Proposed high\u2010risk screening protocol for Fabry disease in patients with renal and vascular disease"],"prefix":"10.1002","volume":"32","author":[{"given":"C.","family":"Auray\u2010Blais","sequence":"first","affiliation":[{"name":"Service of Genetics, Department of Pediatrics, Faculty of Medicine and Health Sciences Universit\u00e9 de Sherbrooke 3001, 12th Avenue North Sherbrooke QC  J1H 5N4 Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. S.","family":"Millington","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center NC 601\u20106 Capitola Drive Durham NC 27713 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. P.","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center NC 601\u20106 Capitola Drive Durham NC 27713 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. T. 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