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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

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Review
1999
Review
1999
High frequency of type 1 GM1 gangliosidosis in southern Brazil
To the Editor: GM1 gangliosidosis (McKusick 230500) is an inborn error of metabolism (IEM) caused by the deficiency of a specific… 
1998
1998
Biochemical characterization of the Cys138Arg substitution associated with the AB variant form of GM2 gangliosidosis: evidence that Cys138 is required for the recognition of the GM2 activator/GM2…
The function of the GM2 activator protein is to act as a substrate-specific cofactor in the hydrolysis of GM2 ganglioside by beta… 
1988
1988
Hexosaminidase A deficiency presenting as juvenile progressive dystonia.
Sir: Hexosaminidase A deficiency is an inherited disorder characterised by the accumulation of GM2-ganglioside in cerebral and… 
Review
1985
Review
1985
The lysosomal hexosaminidase isozymes.
In the 15 years since the demonstration that HEX A is the defective enzyme in patients with TSD, intensive efforts in many… 
1977
1977
Immunochemical and biochemical investigation of hexosaminidase S.
Hexosaminidase S (HEX S), the residual isozyme found in tissues and body fluids of children with the O variant of GM2… 
1976
1976
Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.
Complementation of beta hexosaminidase A (hex A) deficiency was obtained by Sendai virus-mediated somatic cell hybridization of… 
1973
1973
Intrauterine detection of GM1 gangliosidosis, type 2.
GM1 gangliosidosis, type 2 is a familial disorder of sphingolipid metabolism characterized by progressive and unrelenting… 
1972
1972
Clinical and enzymatic variations in G M1 generalized gangliosidosis.
Generalized gangliosidosis is a recessively inherited metabolic disorder characterized chemically by the storage of GM1… 
1969
1969
Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.
Abstract The details of a colorimetric method for the measurement of both β-d-galactosidase and N-acetyl-β-d-glucosaminidase… 
1967
1967
[Landing's disease or early infantile amaurotic idiocy with generalized gangliosidosis of the GM 1 type].