Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Robert J Desnick1, Edward H Schuchman

  • 1Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA. rjdesnick@mssm.edu

Nature Reviews. Genetics
|December 3, 2002
PubMed

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