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… (More)
National Institutes of Health

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BETA-N-ACETYLHEXOSAMINIDASEHEXA geneIn BloodMicrobiological
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Tay-Sachs Disease

Papers overview

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2007
2007
Serial 1H-MRS in GM2 gangliosidoses
GM2 gangliosidoses are a group of neuronal storage disorders caused by deficiency in the lysosomal enzyme hexosaminidase A… (More)
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Highly Cited
2004
Highly Cited
2004
Prevalence of lysosomal storage diseases in Portugal
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on… (More)
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2004
2004
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses.
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage… (More)
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2004
2004
Cerebral glycolipidoses: clinical characteristics of 41 pediatric patients.
A retrospective clinical and biochemical analysis of 41 pediatric patients with cerebral lipidoses seen between 1995 to 2003 was… (More)
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Highly Cited
2003
Highly Cited
2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been… (More)
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Review
1999
Review
1999
Biochemical consequences of mutations causing the GM2 gangliosidoses.
The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination… (More)
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1993
1993
Brain imaging in late-onset GM2 gangliosidosis.
We describe brain CT and MRI characteristics of 10 patients with late-onset GM2 gangliosidosis. Cerebellar atrophy, particularly… (More)
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1990
1990
Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
The lysosomal catabolism of sulfatide requires arylsulfatase A and a specific sphingolipid activator protein, SAP-1. While most… (More)
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1990
1990
Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be constantly associated with… (More)
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1984
1984
Neurophysiological investigations in GM1 and GM2 gangliosidoses.
Neurophysiological studies (EEG, ERG, VEP and BAEP) have been carried out on a total of fifty-four patients (fourty-five GM2 and… (More)
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