Sandhoff Disease

Known as: Sandhoff Jatzkewitz disease, GM2 Gangliosidosis, Type II, Hexosaminidase A and B Deficiency Disease 
An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1973-2017
05101519732017

Papers overview

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Highly Cited
2007
Highly Cited
2007
Intracranial transplantation of neural stem cells (NSCs) delayed disease onset, preserved motor function, reduced pathology and… (More)
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Highly Cited
2004
Highly Cited
2004
Sandhoff disease is a prototypical lysosomal storage disorder in which a heritable deficiency of a lysosomal enzyme, beta… (More)
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2004
2004
The GM2 gangliosidoses are caused by incomplete catabolism of GM2 ganglioside in the lysosome, leading to progressive storage and… (More)
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2003
2003
In humans, two major beta-hexosaminidase isoenzymes exist: Hex A and Hex B. Hex A is a heterodimer of subunits alpha and beta (60… (More)
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2001
2001
Sandhoff disease is a lysosomal storage disorder characterized by G(M2) ganglioside accumulation in the central nervous system… (More)
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Highly Cited
2000
Highly Cited
2000
Sandhoff disease is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase and storage of G(M2… (More)
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Highly Cited
1999
Highly Cited
1999
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene… (More)
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1999
1999
Sandhoff disease is a severe form of GM2 gangliosidosis that is caused by the deficiency of both hexosaminidase A and B. Startle… (More)
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1997
1997
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2… (More)
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Highly Cited
1996
Highly Cited
1996
The GM2 gangliosidoses, Tay-Sachs and Sandhoff diseases, are caused by mutations in the HEXA (α-subunit) and HEXB (β-subunit… (More)
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