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Gaucher Disease

Known as: Glucocerebrosidase Deficiency Diseases, Gauchers Disease, Acid beta-Glucosidase Deficiency 
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of… Expand
National Institutes of Health

Papers overview

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Review
2019
Review
2019
James Parkinson first described the motor symptoms of the disease that took his name over 200 years ago. While our knowledge of… Expand
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Review
2018
Review
2018
Purpose of ReviewDementia with Lewy bodies (DLB) is a neurodegenerative disease that can be clinically and pathologically similar… Expand
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Highly Cited
2011
Highly Cited
2011
Parkinson's disease (PD), an adult neurodegenerative disorder, has been clinically linked to the lysosomal storage disorder… Expand
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Highly Cited
2008
Highly Cited
2008
Tissue culture of immortal cell strains from diseased patients is an invaluable resource for medical research but is largely… Expand
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Highly Cited
2008
Highly Cited
2008
Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and… Expand
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Review
2003
Review
2003
Trehalose is a nonreducing disaccharide in which the two glucose units are linked in an alpha,alpha-1,1-glycosidic linkage. This… Expand
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Highly Cited
2002
Highly Cited
2002
PURPOSE Gaucher disease is the first lysosomal storage disorder to be treated with macrophage-targeted enzyme replacement therapy… Expand
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Current treatment for Gaucher's disease involves administration of intravenous glucocerebrosidase to degrade… Expand
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Highly Cited
1994
Highly Cited
1994
Gaucher disease (GD; glucosylceramidosis) is caused by a deficient activity of the enzyme glucocerebrosidase (GC). Clinical… Expand
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Highly Cited
1991
Highly Cited
1991
BACKGROUND AND METHODS Gaucher's disease, the most prevalent of the sphingolipid storage disorders, is caused by a deficiency of… Expand
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