Neurológia pre prax 2/2018
Pokroky v léčbě dědičných metabolických poruch s neurologickou symptomatologií
The treatment of the inherited metabolic disorders with primary biochemical defects in the CNS has undergone a considerable progress, recently. Our work brings a brief summary of currently available therapeutic possibilities including intrathecal application of enzyme replacement therapy, small molecules treatment, hematopoietic stem cells transplantation and the gene therapy. The early diagnosis and introduction to the therapy are crucial for the therapeutic success.
Keywords: inherited metabolic disorders, enzyme replacement therapy, hematopoietic stem cells transplantation, gene therapy












