Gaucher Disease, Type 3 (disorder)

Known as: GAUCHER DISEASE, TYPE III, Gaucher Disease, Juvenile and Adult, Cerebral, Neuronopathic Gaucher Disease 
This type shows moderate to severe neurological effect in childhood.
National Institutes of Health

Papers overview

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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
2011
Highly Cited
2011
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient in Gaucher's disease (GD) are associated… (More)
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE To evaluate the efficacy and safety of miglustat, concomitant with enzyme replacement therapy (ERT), in patients with… (More)
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Highly Cited
2003
Highly Cited
2003
Gaucher disease, the most common lysosomal storage disease, is caused by mutations in the gene that encodes acid-beta-glucosidase… (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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Highly Cited
2000
Highly Cited
2000
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45). Although >100 mutations in… (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
1997
Highly Cited
1997
Gaucher's disease is characterized by hepatosplenomegaly, bone-marrow infiltration, osteonecrosis and bone thinning, associated… (More)
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Highly Cited
1982
Highly Cited
1982
Three major clinical variants of Gaucher disease have been defined: Type I, chronic nonneuronopathic; Type II, acute… (More)
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Highly Cited
1966
Highly Cited
1966
The accumulation of abnormal quantities of glucocerebroside in the reticuloendothelial cells of patients with Gaucher's disease… (More)
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