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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… 
National Institutes of Health

Related topics

Related topics

19 relations

Narrower (4)

Fabry DiseaseGaucher DiseaseNiemann-Pick Diseasesglycosphingolipidoses
GangliosidosesIn BloodLeukodystrophyMetabolic Diseases

Broader (3)

Lipid Metabolism DisordersLipoidosisLysosomal Storage Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2003
Review
2003
The roles of ceramide and complex sphingolipids in neuronal cell function.
1999
1999
Application of delayed extraction matrix-assisted laser desorption ionization time-of-flight mass spectrometry for analysis of sphingolipids in tissues from sphingolipidosis patients.
Highly Cited
1996
Highly Cited
1996
Topology of glycosphingolipid degradation.
Review
1988
Review
1988
Mammalian glucocerebrosidase: implications for Gaucher's disease.
More than 20 years ago Brady, Kanfer, and Shapiro and coworkers (13) and Patrick (49) identified the deficiency of… 
Review
1974
Review
1974
Normal and abnormal biosynthesis of gangliosides.
1974
1974
GM3 (hematoside) sphingolipodystrophy.
Abstract To characterize further disorders involving storage of glycosphingolipids, we studied an infant who had poor physical… 
Highly Cited
1972
Highly Cited
1972
Sphingolipids, Sphingolipidoses and Allied Disorders
A method is presented with which abnormalities of brain lipid composition can be disclosed and defined precisely. The total… 
Highly Cited
1970
Highly Cited
1970
Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism
A 3-year-old Negro female showed clinical evidence of a neurovisceral storage disorder that has been characterized by the… 
Highly Cited
1968
Highly Cited
1968
The sphingolipidoses and the eye.
The sphingolipidoses constitute a segment of the inborn errors of metabolism in which glycolipids having a sphingosine base… 
1962
1962
Genetics of the Sphingolipidoses1
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