Therapies for lysosomal storage diseases

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

4 Scopus citations


The various approaches to the treatment of Lysosomal Storage Diseases (LSDs) are reviewed. These include bone marrow transplantation (BMT), hematopoietic stem cell transplantation (HSCT), enzyme replacement therapy (ERT), substrate reduction therapy (SRT), pharmacologic chaperone therapy (PCT), and gene therapy including genome-editing. For each of those therapeutic approaches, the methodology as well as the relative safe and effectiveness in various LSDs are reviewed. With respect to gene therapy and various genome-editing techniques, the methodology and current experimental approaches are presented.

Original languageEnglish
Title of host publicationEmery and Rimoin's Principles and Practice of Medical Genetics and Genomics
Subtitle of host publicationClinical Principles and Applications
Number of pages23
ISBN (Electronic)9780128125366
ISBN (Print)9780128126844
StatePublished - 1 Jan 2018


  • Bone marrow therapy (BMT)
  • Enzyme replacement therapy (ERT)
  • Gene therapy
  • Genome editing
  • Hematopoietic stem cell transplantation (HSCT)
  • Lysosomal storage diseases (LSDs)
  • Pharmacologic chaperone therapy (PCT)
  • Substrate reduction therapy (SRT)


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