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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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2000
2000
This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of… 
Review
1999
Review
1999
Gaucher disease, the inherited deficiency of lysoomal glucocerebrosidase (EC 3.2.1.45), presents ith diverse clinical phenotypes… 
Highly Cited
1995
Highly Cited
1995
We have achieved high-efficiency gene transfer into nonmobilized peripheral blood (PB) CD34+ cells from patients with Gaucher's… 
Review
1995
Review
1995
The identity and genetic origins of the nonspecific orthophosphate monoesterases with an acid pH optimum--the acid phosphatases… 
Highly Cited
1986
Highly Cited
1986
Human acid beta-glucosidase (glucosylceramidase; EC 3.2.1.45) cleaves the glycosidic bonds of glucosyl ceramide and synthetic… 
Highly Cited
1982
Highly Cited
1982
Multiple molecular forms of beta-glucocerebrosidase that permit discrimination between neurologic and non-neurologic phenotypes… 
Highly Cited
1980
Highly Cited
1980
The thermotropic behavior of aqueous dispersions of glucocerebroside from Gaucher's spleen has been investigated by different… 
Highly Cited
1977
Highly Cited
1977
Gaucher's disease is a lysosomal storage disease caused by a deficiency in the enzyme glucocerebrosidase. A small, heat-stable… 
Highly Cited
1972
Highly Cited
1972
A method is presented with which abnormalities of brain lipid composition can be disclosed and defined precisely. The total…