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Gaucher Disease, Type 3 (disorder)
Known as:
GAUCHER DISEASE, TYPE III
, Gaucher Disease, Juvenile and Adult, Cerebral
, Neuronopathic Gaucher Disease
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This type shows moderate to severe neurological effect in childhood.
National Institutes of Health
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Related topics
Related topics
13 relations
Ataxia
Autosomal recessive inheritance
Gaucher Disease, Type 2 (disorder)
Mental Depression
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Broader (2)
Gaucher Disease
Lipoidosis
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
P. Maaswinkel-Mooij
,
C. Hollak
,
M. Van Eysden-Plaisier
,
M. Prins
,
H. Aerts
,
R. Pöll
Journal of Inherited Metabolic Disease
2000
Corpus ID: 34067316
This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of…
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Review
1999
Review
1999
Type 2 gaucher disease: an expanding phenotype.
N. Tayebi
,
Deborah L. Stone
,
Ellen Sidransky
Molecular Genetics and Metabolism
1999
Corpus ID: 40503210
Gaucher disease, the inherited deficiency of lysoomal glucocerebrosidase (EC 3.2.1.45), presents ith diverse clinical phenotypes…
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Highly Cited
1995
Highly Cited
1995
Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients.
Licheng Xu
,
S. Kluepfel-Stahl
,
Maritza Blanco
,
Raphael Schiffmann
,
Cynthia E. Dunbar
,
Stefan Karlsson
Blood
1995
Corpus ID: 24835999
We have achieved high-efficiency gene transfer into nonmobilized peripheral blood (PB) CD34+ cells from patients with Gaucher's…
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Review
1995
Review
1995
Clinical and biological aspects of acid phosphatase.
D. Moss
,
F. Raymond
,
D. Wile
Critical reviews in clinical laboratory sciences
1995
Corpus ID: 35599215
The identity and genetic origins of the nonspecific orthophosphate monoesterases with an acid pH optimum--the acid phosphatases…
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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.
G. Grabowski
,
K. Osiecki-Newman
,
+4 authors
R. Desnick
Journal of Biological Chemistry
1986
Corpus ID: 12601224
Human acid beta-glucosidase (glucosylceramidase; EC 3.2.1.45) cleaves the glycosidic bonds of glucosyl ceramide and synthetic…
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Highly Cited
1982
Highly Cited
1982
Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease.
I. Edward
,
Ginns
,
+7 authors
J. Barranger
Proceedings of the National Academy of Sciences…
1982
Corpus ID: 9265579
Multiple molecular forms of beta-glucocerebrosidase that permit discrimination between neurologic and non-neurologic phenotypes…
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Highly Cited
1980
Highly Cited
1980
Calorimetric investigation of the complex phase behavior of glucocerebroside dispersions.
E. Freire
,
D. Bach
,
M. Correa-Freire
,
I. Miller
,
Y. Barenholz
Biochemistry
1980
Corpus ID: 25265411
The thermotropic behavior of aqueous dispersions of glucocerebroside from Gaucher's spleen has been investigated by different…
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Highly Cited
1977
Highly Cited
1977
Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen.
S. Peters
,
P. Coyle
,
C. Coffee
,
R. Glew
Journal of Biological Chemistry
1977
Corpus ID: 39163168
Gaucher's disease is a lysosomal storage disease caused by a deficiency in the enzyme glucocerebrosidase. A small, heat-stable…
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Highly Cited
1972
Highly Cited
1972
Sphingolipids, Sphingolipidoses and Allied Disorders
B. Volk
,
S. Aronson
Advances in Experimental Medicine and Biology
1972
Corpus ID: 7365322
A method is presented with which abnormalities of brain lipid composition can be disclosed and defined precisely. The total…
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Highly Cited
1965
Highly Cited
1965
LIPIDS OF THE SPLEEN IN GAUCHER'S DISEASE.
W. Suomi
,
B. Agranoff
Journal of Lipid Research
1965
Corpus ID: 31079708
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