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Gaucher Disease, Type 2 (disorder)
Known as:
Gaucher Disease, Acute Neuronopathic
, GD II
, Gaucher Disease Type 2
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This type usually shows severe neurological effect in the first year of life.
National Institutes of Health
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Related topics
Related topics
22 relations
Anemia
Apnea
Autosomal recessive inheritance
Cerebral atrophy
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Broader (2)
Gaucher Disease
Lipoidosis
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2020
Highly Cited
2020
A characterization of Gaucher iPS-derived astrocytes: Potential implications for Parkinson's disease
E. Aflaki
,
B. Stubblefield
,
R. McGlinchey
,
B. McMahon
,
D. Ory
,
E. Sidransky
Neurobiology of Disease
2020
Corpus ID: 204968762
Highly Cited
2016
Highly Cited
2016
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease
J. Marshall
,
Ying Sun
,
+9 authors
Seng H. Cheng
Molecular Therapy
2016
Corpus ID: 10154192
Gaucher disease (GD) is caused by a deficiency of glucocerebrosidase and the consequent lysosomal accumulation of unmetabolized…
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Highly Cited
2014
Highly Cited
2014
Gaucher iPSC‐Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development
L. M. Panicker
,
Diana Miller
,
+6 authors
R. Feldman
Stem Cells
2014
Corpus ID: 28553414
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β‐glucocerebrosidase (GCase; GBA) gene…
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Review
2013
Review
2013
Defective quality control mechanisms and accumulation of damaged mitochondria link Gaucher and Parkinson diseases
L. Osellame
,
M. Duchen
Autophagy
2013
Corpus ID: 30766002
Mutations in the GBA gene encoding glucocerebrosidase cause Gaucher disease (GD), the most prevalent of the lysosomal storage…
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Highly Cited
2010
Highly Cited
2010
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
C. Hollak
,
S. vom Dahl
,
+19 authors
T. Cox
Blood Cells, Molecules & Diseases
2010
Corpus ID: 19055378
Highly Cited
2009
Highly Cited
2009
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome.
Philippe M. Campeau
,
M. Rafei
,
M. Boivin
,
Ying Sun
,
G. Grabowski
,
J. Galipeau
Blood
2009
Corpus ID: 206878435
Gaucher disease causes pathologic skeletal changes that are not fully explained. Considering the important role of mesenchymal…
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Highly Cited
2005
Highly Cited
2005
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
H. Pavlú-Pereira
,
B. Asfaw
,
+8 authors
M. Elleder
Journal of Inherited Metabolic Disease
2005
Corpus ID: 23110715
SummaryA multi-approach study in a series of 25 Czech and Slovak patients with acid sphingomyelinase deficiency revealed a broad…
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Highly Cited
2000
Highly Cited
2000
Epidermal sphingomyelins are precursors for selected stratum corneum ceramides.
Y. Uchida
,
M. Hara
,
+7 authors
S. Hamanaka
Journal of Lipid Research
2000
Corpus ID: 16072768
Epidermal ceramides (Cer) comprise a heterogeneous family of seven species, including two unique omega-hydroxylated Cer, that are…
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Highly Cited
1985
Highly Cited
1985
Direct evidence by carbon-13 NMR spectroscopy for the erythro configuration of the sphingoid moiety in Gaucher cerebroside and other natural sphingolipids.
F. Sarmientos
,
G. Schwarzmann
,
K. Sandhoff
European Journal of Biochemistry
1985
Corpus ID: 22879301
By comparison of carbon-13 NMR data from Gaucher cerebroside and from other natural sphingolipids with those from synthetic L…
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1977
1977
Isolation of heat-stable glucocerebrosidase activators from the spleens of three variants of Gaucher's disease.
S. Peters
,
C. Coffee
,
+4 authors
Y. Li
Archives of Biochemistry and Biophysics
1977
Corpus ID: 43607156
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