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14 Found
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Tay-Sachs Disease -- See Also beta-N-Acetylhexosaminidases


A hexosaminidase specific for non-reducing N-acetyl-D-hexosamine residues in N-acetyl-beta-D-hexosaminides. It acts on GLUCOSIDES; GALACTOSIDES; and several OLIGOSACCHARIDES. Two specific mammalian isoenzymes of beta-N-acetylhexoaminidase are referred to as HEXOSAMINIDASE A and HEXOSAMINIDASE B. Deficiency of the type A isoenzyme causes TAY-SACHS DISEASE, while deficiency of both A and B isozymes causes SANDHOFF DISEASE. The enzyme has also been used as a tumor marker to distinguish between malignant and benign disease
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2 Tay-Sachs disease.   6
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Tay-Sachs Disease, B Variant -- See Tay-Sachs Disease


An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry
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4 Tay-Sachs disease -- Ethnology : Testing fate : Tay-Sachs disease and the right to be responsible / Shelley Z. Reuter  2016 1
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Tay-Sachs Disease Ganglioside -- See G(M2) Ganglioside


A glycosphingolipid that accumulates due to a deficiency of hexosaminidase A or B (BETA-N-ACETYLHEXOSAMINIDASES), or GM2 activator protein, resulting in GANGLIOSIDOSES, heredity metabolic disorders that include TAY-SACHS DISEASE and SANDHOFF DISEASE
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6 Tay-Sachs disease -- Genetic aspects. : The troubled dream of genetic medicine : ethnicity and innovation in Tay-Sachs, cystic fibrosis, and sickle cell disease / Keith Wailoo and Stephen Pemberton  2006 1
7 Tay-Sachs Disease -- genetics. : GM2 gangliosidosis / Don Mahuran  2007 1
8 Tay-Sachs disease -- History. : Testing fate : Tay-Sachs disease and the right to be responsible / Shelley Z. Reuter  2016 1
9 Tay-Sachs Disease -- metabolism. : GM2 gangliosidosis / Don Mahuran  2007 1
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