Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

Abstract

This study provides an analysis of the storage process in Gaucher disease type I and evaluates efficiency of enzyme replacement therapy in different types of organs. Problems with existence of Gaucher cells populations resistent to treatment are discussed.

Keywords

• hepatocellular-carcinoma
• glucocerebrosidase
• malignancies
• deficiency
• biomarkers