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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

Related topics

Related topics

13 relations
AtaxiaAutosomal recessive inheritanceGaucher Disease, Type 2 (disorder)Mental Depression

Broader (2)

Gaucher DiseaseLipoidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2000
2000
The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations
This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of… 
Review
1999
Review
1999
Type 2 gaucher disease: an expanding phenotype.
Gaucher disease, the inherited deficiency of lysoomal glucocerebrosidase (EC 3.2.1.45), presents ith diverse clinical phenotypes… 
Highly Cited
1995
Highly Cited
1995
Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients.
We have achieved high-efficiency gene transfer into nonmobilized peripheral blood (PB) CD34+ cells from patients with Gaucher's… 
Review
1995
Review
1995
Clinical and biological aspects of acid phosphatase.
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. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
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
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
Multiple molecular forms of beta-glucocerebrosidase that permit discrimination between neurologic and non-neurologic phenotypes… 
Highly Cited
1980
Highly Cited
1980
Calorimetric investigation of the complex phase behavior of glucocerebroside dispersions.
The thermotropic behavior of aqueous dispersions of glucocerebroside from Gaucher's spleen has been investigated by different… 
Highly Cited
1977
Highly Cited
1977
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
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
Sphingolipids, Sphingolipidoses and Allied Disorders
A method is presented with which abnormalities of brain lipid composition can be disclosed and defined precisely. The total… 
Highly Cited
1965
Highly Cited
1965
LIPIDS OF THE SPLEEN IN GAUCHER'S DISEASE.
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