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… (More)
National Institutes of Health

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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… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a… (More)
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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… (More)
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Review
2004
Review
2004
Gaucher disease, the recessively inherited deficiency of the enzyme glucocerebrosidase and the most common sphingolipidosis, has… (More)
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Highly Cited
2004
Highly Cited
2004
An association between Gaucher disease and Parkinson disease has been demonstrated by the concurrence of Gaucher disease and… (More)
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Highly Cited
2004
Highly Cited
2004
To better understand the pathogenesis of brain dysfunction in Gaucher disease (GD), we studied brain pathology in seven subjects… (More)
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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… (More)
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Current treatment for Gaucher's disease involves administration of intravenous glucocerebrosidase to degrade… (More)
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Review
1997
Review
1997
Gaucher's disease is an inherited disorder characterized by pathological storage of glycolipid in mononuclear phagocytes: it is a… (More)
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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… (More)
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