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Gangliosidoses

Known as: Gangliosidoses [Disease/Finding], Ganglioside Storage Disorders, Storage Diseases, Ganglioside 
A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or… 
National Institutes of Health

Related topics

Related topics

15 relations

Broader (2)

Cerebral degenerationLysosomal Storage Diseases
GalactosidaseHexosaminidasesIn BloodMicrobiological

Narrower (3)

Gangliosidosis GM1Sandhoff DiseaseTay-Sachs Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1996
Highly Cited
1996
Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.
Lysosomal degradation of ganglioside GM2 by beta-hexosaminidase A (hex A) requires the presence of the GM2 activator protein… 
Highly Cited
1992
Highly Cited
1992
Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a…
It has been shown that sphingolipid activator proteins (SAPs) 1 and 2 are encoded on the same gene along with two other putative… 
Highly Cited
1991
Highly Cited
1991
The human GM2 activator protein. A substrate specific cofactor of beta-hexosaminidase A.
Review
1991
Review
1991
The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis.
Highly Cited
1990
Highly Cited
1990
Juvenile GM2 gangliosidosis caused by substitution of histidine for arginine at position 499 or 504 of the alpha-subunit of beta-hexosaminidase.
Highly Cited
1984
Highly Cited
1984
Synthesis of 4-methylumbelliferyl-beta-D-N-acetylglucosamine-6-sulfate and its use in classification of GM2 gangliosidosis genotypes.
Highly Cited
1978
Highly Cited
1978
Ectopic dendritic growth in mature pyramidal neurones in human ganglioside storage disease
PYRAMIDAL CELLS are highly differentiated cortical neurones whose morphophysiological properties derive largely from dendritic… 
Highly Cited
1977
Highly Cited
1977
Structure of seven oligosaccharides excreted in the urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O).
The urine of a patient with Sandhoff's disease (GM2 gangliosidosis-variant O) contains 10--12 N-acetylglucosamine-rich… 
Highly Cited
1976
Highly Cited
1976
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
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… 
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