Related Experiment Video
Updated: Aug 20, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Raised HDL cholesterol in Fabry disease: response to enzyme replacement therapy
D J Cartwright1, A L Cole, A J Cousins
1Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK.
Journal of Inherited Metabolic Disease
|December 25, 2004
Abstract:
Fabry disease patients have increased risk of vascular disease despite cardioprotective increased HDL-cholesterol. Enzyme therapy does not significantly alter the lipid profile in the short term.
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