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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… Expand
National Institutes of Health

Papers overview

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Highly Cited
2006
Highly Cited
2006
Tumor hypoxia figures heavily in malignant progression by altering the intracellular glucose metabolism and inducing angiogenic… Expand
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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… Expand
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Highly Cited
2003
Highly Cited
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… Expand
Highly Cited
2003
Highly Cited
2003
Gangliosides are found at high levels in neuronal tissues where they play a variety of important functions. In the gangliosidoses… Expand
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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… Expand
Highly Cited
1999
Highly Cited
1999
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene… Expand
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Highly Cited
1998
Highly Cited
1998
The GM2 gangliosidoses are a group of severe, neurodegenerative conditions that include Tay-Sachs disease, Sandhoff disease, and… Expand
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Highly Cited
1997
Highly Cited
1997
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2… Expand
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Highly Cited
1996
Highly Cited
1996
Chitin, the second most abundant polysaccharide on earth, is degraded by chitinases and chitobiases. The structure of Serratia… Expand
Highly Cited
1971
Highly Cited
1971
In autopsy tissues of 12 cases of Tay‐Sachs disease the N‐acetyl‐β‐hexosamini‐dase A and B activities were investigated using… Expand