Patryk Lipiński, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska
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Pharmacological chaperone therapy for the treatment of inborn errors of metabolism
The article describes the mechanism of molecular and pharmacological chaperones in the treatment of inborn errors of metabolism. The literature review of the usage of ambroxol acting as a pharmacological chaperone for beta-glucocerebrosidase in Gaucher disease and Parkinson’s disease associated with GBA variants has been reviewed.