sphingosyl beta-glucoside

Known as: glucosylsphingosine, glucosyl psychosine, glucosyl sphingosine 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1972-2017
05101519722017

Papers overview

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2014
2014
Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most… (More)
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Highly Cited
2013
Highly Cited
2013
Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk factor for developing the… (More)
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2011
2011
Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide… (More)
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2010
2010
Gaucher disease is caused by defective acid beta-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for… (More)
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Highly Cited
2003
Highly Cited
2003
We recently demonstrated that elevation of intracellular glucosylceramide (GlcCer) levels results in increased functional Ca2… (More)
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2003
2003
Patients with Gaucher disease have been classified as type 1 nonneuronopathic, type 2 acute neuronopathic, and type 3 chronic… (More)
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Highly Cited
2002
Highly Cited
2002
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, presents with a wide spectrum of clinical… (More)
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2000
2000
Gaucher disease, the most common of the sphingolipidoses, results from the inherited deficiency of the enzyme glucocerebrosidase… (More)
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1984
1984
The Norrbottnian type of Gaucher disease is characterized by infantile or juvenile onset and variable degrees of neurological… (More)
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Highly Cited
1982
Highly Cited
1982
Three major clinical variants of Gaucher disease have been defined: Type I, chronic nonneuronopathic; Type II, acute… (More)
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