glycosphingolipidoses

 

Topic mentions per year

Topic mentions per year

1989-2017
02419892017

Papers overview

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2018
2018
Over the last half-century, understanding the manifestations and molecular pathogenesis of Gaucher disease has captured the… (More)
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2018
2018
In a recent letter to the editor published in this journal, Fernandes performed a valuable integration of results obtained in our… (More)
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Review
2006
Review
2006
Enzyme activity can be deficient in the lysosome because certain newly synthesised mutation-bearing proteins are unstable and… (More)
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2004
2004
Gaucher disease is a member of a family of inherited disorders called sphingolipidoses that among others includes Tay-Sachs and… (More)
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2004
2004
Glycosphingolipids are ubiquitous membrane constituents that are subdivided in neutral or acidic fractions (gangliosides and… (More)
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Review
2004
Review
2004
Glycosphingolipids are ubiquitous membrane constituents that are subdivided in neutral or acidic fractions (gangliosides and… (More)
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2004
2004
Niemann-Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a… (More)
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Review
2003
Review
2003
N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of… (More)
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2000
2000
Deficiency of lysosomal acid beta-glucosidase induces glycolipid storage in the macrophages of Gaucher disease but the pathways… (More)
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1997
1997
The imino sugar N-butyldeoxynojirimycin is an inhibitor of the ceramide-specific glucosyltransferase that catalyzes the first… (More)
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