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Pharmacological chaperone therapy for the treatment of inborn errors of metabolism

Authors

  • Patryk Lipiński Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw
  • Aleksandra Jezela-Stanek Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw
  • Anna Tylki-Szymańska 1Department of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw

DOI:

https://doi.org/10.18388/pb.2021_451

Abstract

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.

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Published

2022-07-17

Versions

Issue

Vol. 68 No. 3 (2022)

Section

Articles

License

Copyright (c) 2022 Patryk Lipiński, Aleksandra Jezela-Stanek, Anna Tylki-Szymańska

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Copyright for the journal: © Polish Biochemical Society.