PR Interval and the Response to Enzyme-Replacement Therapy for Fabry's Disease
- 20 March 2003
- journal article
- letter
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 348 (12) , 1186-1187
- https://doi.org/10.1056/nejm200303203481224
Abstract
Fabry's disease is a rare, X-linked disorder characterized by subnormal or absent activity of the lysosomal hydrolase α-galactosidase A. A deficiency of α-galactosidase A leads to progressive lysosomal accumulation of glycosphingolipids (particularly globotriaosylceramide), causing renal and cardiac damage.Keywords
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