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Gaucher Disease, Type 2 (disorder)

Known as: Gaucher Disease, Acute Neuronopathic, GD II, Gaucher Disease Type 2 
This type usually shows severe neurological effect in the first year of life.
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
Gaucher disease (GD) is caused by a deficiency of glucocerebrosidase and the consequent lysosomal accumulation of unmetabolized… 
Highly Cited
2014
Highly Cited
2014
Gaucher disease (GD) is an autosomal recessive disorder caused by mutations in the acid β‐glucocerebrosidase (GCase; GBA) gene… 
Review
2013
Review
2013
Mutations in the GBA gene encoding glucocerebrosidase cause Gaucher disease (GD), the most prevalent of the lysosomal storage… 
Highly Cited
2009
Highly Cited
2009
Gaucher disease causes pathologic skeletal changes that are not fully explained. Considering the important role of mesenchymal… 
Highly Cited
2005
Highly Cited
2005
SummaryA multi-approach study in a series of 25 Czech and Slovak patients with acid sphingomyelinase deficiency revealed a broad… 
Highly Cited
2000
Highly Cited
2000
Epidermal ceramides (Cer) comprise a heterogeneous family of seven species, including two unique omega-hydroxylated Cer, that are… 
Highly Cited
1985
Highly Cited
1985
By comparison of carbon-13 NMR data from Gaucher cerebroside and from other natural sphingolipids with those from synthetic L…