Related Experiment Video

Updated: Oct 9, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

[Biochemical and genetic diagnosis of Gaucher disease and its phenotypical heterogeneity]

E M Beĭer1, T M Bukina, I V Tsvetkova

  • 1Orekhovich Institute of Biomedical Chemistry, RAMS, Pogodinskaya St. 10, 119832, Moscow, Russia.

Voprosy Meditsinskoi Khimii
|February 24, 2001
PubMed

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