Enzyme Replacement in Gaucher Disease

  title={Enzyme Replacement in Gaucher Disease},
  author={Ernest Beutler},
  journal={PLoS Medicine},
  pages={1045 - 1049}
118 Gaucher disease is the most common lysosomal storage disorder (Box 1). A defi ciency of the enzyme glucocerebrosidase (Figure 1) causes accumulation of the glycolipid glucocerebroside in macrophages throughout the body. In the viscera, glucocerebroside arises mainly from the biodegradation of red and white blood cells. In the brain, glucocerebroside arises from the turnover of complex lipids during brain development and the formation of the myelin sheath of nerves. The disease may be… CONTINUE READING
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