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Sphingolipidoses

Known as: Storage Diseases, Sphingolipid, Sphingolipid Storage Disease, Storage Disease, Sphingolipid 
A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM… Expand
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
Increasing Hsp70 expression in lysosomes using the small-molecule arimoclomol ameliorates pathology in several animal models of… Expand
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Highly Cited
2010
Highly Cited
2010
Gaucher disease (GD), a sphingolipidosis characterized by impaired activity of the lysosomal enzyme glucocerebrosidase (GCase… Expand
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Highly Cited
2007
Highly Cited
2007
Niemann-Pick C (NPC) disease is an autosomal recessive lipid storage disorder characterized by a disruption of sphingolipid and… Expand
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Review
2006
Review
2006
Human diseases caused by alterations in the metabolism of sphingolipids or glycosphingolipids are mainly disorders of the… Expand
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Review
2004
Review
2004
Gaucher disease, the recessively inherited deficiency of the enzyme glucocerebrosidase and the most common sphingolipidosis, has… Expand
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Review
2001
Review
2001
  • Timothy M. Cox
  • Journal of Inherited Metabolic Disease
  • 2001
  • Corpus ID: 22781915
Gaucher disease is a typical lysosomal storage disease, resulting from an inborn deficiency of glucocerebrosidase. This leads to… Expand
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Highly Cited
2001
Highly Cited
2001
Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by lysosomal accumulation of… Expand
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Highly Cited
1987
Highly Cited
1987
Lysosphingolipids potently and reversibly inhibited protein kinase C activity and binding of phorbol dibutyrate in vitro and in… Expand
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Highly Cited
1984
Highly Cited
1984
The twitcher mouse is an animal model of galactosylceramidase deficiency (Krabbe's disease), a human sphingolipidosis. The… Expand
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Highly Cited
1963
Highly Cited
1963
consistent with the hypothesis (3) postulating homogentisate and toluoquinone as intermediates in the sequence to the aromatic… Expand
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