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Gangliosidoses, GM2

Known as: GM2, Gangliosidoses, Gangliosidose, GM2, Gangliosidoses GM2 
A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes… 
National Institutes of Health

Papers overview

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2014
2014
The GM2 gangliosidoses are a group of autosomal recessive lysosomal storage disorders caused by defective β‐hexosaminidase. There… 
Highly Cited
2004
Highly Cited
2004
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage… 
Highly Cited
1998
Highly Cited
1998
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and… 
1995
1995
PURPOSE To establish changes on MR of the brain in a feline model of Sandhoff disease in order to develop standards by which this… 
1993
1993
We describe brain CT and MRI characteristics of 10 patients with late-onset GM2 gangliosidosis. Cerebellar atrophy, particularly… 
Review
1991
Review
1991
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently… 
Highly Cited
1990
Highly Cited
1990
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be constantly associated with… 
Highly Cited
1985
Highly Cited
1985
Ganglioside GM2, 3H-labeled in the sphingoid base, was added to the culture medium of normal and GM2 gangliosidosis fibroblasts… 
1985
1985
Abstract: Neurochemical studies were performed on synaptosomal membranes from cats with GM1 or GM2 gangliosidosis to examine… 
Highly Cited
1984
Highly Cited
1984
4‐Methylumbelliferyl‐6‐sulfo‐2‐acetamido‐2‐deoxy‐β‐D‐glucopyranoside was synthesized and tested as a substrate for the diagnosis…