Article
Vasculopathy in patients with Fabry disease: current controversies and research directions.
Molecular genetics and metabolism - 1 Feb 2010
Rombach S M, Twickler Th B, Aerts J M F G, Linthorst G E, Wijburg F A, Hollak C E M
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disorder due to deficiency of the enzyme alpha-galactosidase A. The principal clinical manifestations of Fabry disease consist of cardiovascular complications including cerebrovascular, renal and cardiac disease but the pathophysiology of this specific vasculopathy is unclear. With the development of targeted treatment for Fabry disease, i.e. enzyme replacement...
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