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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Functional Testing of Familial Hypercholesterolemia-Related Variants: From Bench to Clinics
Marjorie H Mizuta1, Raul D Santos2
1Lipid Clinic Heart Institute (InCor), University of Sao Paulo Medical School Hospital, Sao Paulo, Brazil.
No abstract available in PubMed .
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