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Enzyme replacement therapy in type 1 Gaucher disease and a review of the literature
Gaucher disease (GD) is the most common lysosomal storage disorder. Deficiency of the lysosomal enzyme glucocerebrosidase results in the intracellular accumulation of undegraded substrates in the spleen, liver and bone marrow. Enzyme replacement therapy (ERT) is a standard approach for type 1 GD. Here, we present an adult patient with hematological disorders due to type 1 GD, who markedly improved with ERT.

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Authors: Gökhan Kabaçam, Gülşah Kabaçam, Pervin Topçuoğlu, Işınsu Kuzu, Mutlu Arat

Keywords: Gaucher hastalığı, glukoserebrosidaz, tedavi

  • Year: 2010
  • Number: 3
  • Referance No: 73644

  • Figure 1. Bone marrow biopsy (a) and smear (b) revealed diffuse infiltration by typical Gaucher cells
  • Figure 2. The normal bone marrow cells became the dominant cellular components of the marrow areas after therapy. The decrease in infiltrative cells was examined either on biopsy sections (a) or smear preparations (b)

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