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Tay-Sachs Disease, AB Variant

Known as: GM2 Protein Activator Deficiency Disease, GM2 Gangliosidosis, Type AB, Tay Sachs Disease, AB Variant 
A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is… 
National Institutes of Health

Related topics

Related topics

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Abnormal pyramidal signsAutosomal recessive inheritanceCerebral atrophyChorea

Papers overview

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Review
2015
Review
2015
Chemical composition of the circumstellar disk around AB Aurigae
Aims. Our goal is to determine the molecular composition of the circumstellar disk around AB Aurigae (hereafter, AB Aur). AB Aur… 
2011
2011
Possibilities for using harvester measurement as a basis for payment at Derome Skog AB
Derome Skog AB wants to increase their use of harvester measurement as a basis for calculating the price of timber. The reason… 
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… 
1989
1989
Facial changes in children treated with the Activator appliance: a lateral cephalometric study.
: Using lateral cephalometry, facial profile changes in 32 children treated with the Activator appliance were assessed and… 
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… 
1987
1987
Spondyloepiphyseal dysplasia tarda: a new autosomal recessive variant with mental retardation.
A new variant of spondyloepiphyseal dysplasia tarda with mild to moderate mental retardation is described in three daughters born… 
1984
1984
The genetic variants of group-specific component (vitamin D-binding protein) possess different binding characteristics for immobilized Cibacron Blue 3-GA.
The elution profiles of several variants of the Gc protein have been studied after chromatography on immobilized Cibacron Blue 3… 
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… 
1968
1968
Variant Bacteria and Chronic Disease
What has been learned thus far of the natural history of bacterial variants suggests that their typical lack of cell wall may… 
1964
1964
STUDIES ON THE MECHANISM OF ISOANTIGENIC VARIANT FORMATION IN HETEROZYGOUS MOUSE TUMORS. III. BEHAVIOR OF H-2 ANTIGENS D AND K WHEN LOCATED IN THE TRANS POSITION.