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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1961-2018
051019612018

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Gaucher disease (GD), a sphingolipidosis characterized by impaired activity of the lysosomal enzyme glucocerebrosidase (GCase… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2007
2007
The mechanisms by which low-density lipoprotein (LDL)-cholesterol exits the endocytic circuits are not well understood. The… (More)
Is this relevant?
2004
2004
During the last 5 years 2057 children under the age of 5 with various neurologic symptoms with the suspected diagnosis of… (More)
Is this relevant?
2001
2001
A fatal infantile storage disorder with hepatosplenomegaly and severe neurological disease is described. Sphingolipids, including… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Tay–Sachs and Sandhoff diseases are clinically similar neurodegenerative disorders. These two sphingolipidoses are characterized… (More)
Is this relevant?
1995
1995
Gaucher's disease, the most common sphingolipidosis, is caused by deficiency of the lysosomal enzyme glucocerebrosidase. Therapy… (More)
Is this relevant?
Highly Cited
1987
Highly Cited
1987
Lysosphingolipids potently and reversibly inhibited protein kinase C activity and binding of phorbol dibutyrate in vitro and in… (More)
Is this relevant?
1984
1984
The twitcher mouse is an animal model of galactosylceramidase deficiency (Krabbe's disease), a human sphingolipidosis. The… (More)
Is this relevant?
1980
1980
The Twitcher is a new neurological mutant of mouse which shows clinical and histopathological features similar to those of human… (More)
Is this relevant?