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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Developments in the treatment of Fabry disease

Sanne J van der Veen1, Carla E M Hollak1, André B P van Kuilenburg2

  • 1Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, AZ, Amsterdam, The Netherlands.

Journal of Inherited Metabolic Disease
|February 22, 2020
PubMed

Keywords:
Fabry diseasechaperone therapyenzyme replacement therapy (ERT)gene therapysubstrate reduction therapy (SRT)treatment

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