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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Pramod K Mistry1, Grisel Lopez2, Raphael Schiffmann3
1Yale University School of Medicine, Department of Internal Medicine, 333 Cedar Street, LMP 1080, P.O. Box 208019, New Haven, CT 06520-8019, United States.
Decades of research on Gaucher disease, a glucocerebrosidase deficiency, have led to enzyme replacement therapy and identified gene mutations linked to parkinsonism.
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