Glucocerebrosidase expression and analysis
Gaucher disease, an autosomal recessive disorder, is characterized by a heterogeneous set of signs and symptoms caused by a deficiency in the lysosomal enzyme glucocerebrosidase. As a single gene enzyme deficiency, Gaucher disease is a prime candidate for enzyme replacement therapy. Such therapy exi...
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2008
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| Online Access: | http://hdl.handle.net/1828/354 |