Neurol. praxi. 2018;19(2):100-103 | DOI: 10.36290/neu.2018.085

Advances in treatment of inherited metabolic disorders with neurological symptomatology

doc. MUDr. Martin Magner, Ph.D., MUDr. Hana Kolářová, doc. MUDr. Tomáš Honzík, Ph.D.
Klinika dětského a dorostového lékařství, 1. lékařská fakulta Univerzity Karlovy a Všeobecná fakultní nemocnice v Praze

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.

Keywords: inherited metabolic disorders, enzyme replacement therapy, hematopoietic stem cells transplantation, gene therapy

Published: May 1, 2018  Show citation

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Magner M, Kolářová H, Honzík T. Advances in treatment of inherited metabolic disorders with neurological symptomatology. Neurol. praxi. 2018;19(2):100-103. doi: 10.36290/neu.2018.085.
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