Enzyme replacement therapy in adult patients with type I Gaucher disease


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Abstract

Enzyme replacement therapy (ERT) is the standard for the treatment of Gaucher disease (GD). A lifelong intravenous administration of a recombinant analogue of human glucocerebrosidase compensates for the functional deficiency of its own enzyme. The use of ERT has changed the clinical phenotype of GD, a severe progressive disease has been turned into the status of an asymptomatic metabolic defect. At the same time, a reduced dosing ERT regimen applied in Gaucher patients who had achieved therapeutic goals has not yet been developed.

About the authors

R V Ponomarev

National Research Center for Hematology

Email: Ponomarev.r.v@icloud.com
аспирант, врач-гематолог отд-ния орфанных заболеваний ФГБУ «НМИЦ гематологии» Минздрава России Moscow, Russia

E A Lukina

National Research Center for Hematology

д.м.н., проф., зав. отд-нием орфанных заболеваний ФГБУ «НМИЦ гематологии» Минздрава России Moscow, Russia

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