Publication at First Faculty of Medicine |
2018
Abstract
The treatment of the inherited metabolic disorders with primary biochemical defects in the CNS has undergone a considerableprogress, recently. Our work brings a brief summary of currently available therapeutic possibilities including intrathecal applicationof enzyme replacement therapy, small molecules treatment, hematopoietic stem cells transplantation and the gene therapy.
Theearly diagnosis and introduction to the therapy are crucial for the therapeutic success.