urea has been researched along with Tay-Sachs Disease in 1 studies
pseudourea: clinical use; structure
isourea : A carboximidic acid that is the imidic acid tautomer of urea, H2NC(=NH)OH, and its hydrocarbyl derivatives.
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.
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (100.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Nyhan, WL | 1 |
1 review available for urea and Tay-Sachs Disease
Article | Year |
---|---|
Understanding inherited metabolic disease.
Topics: Amniocentesis; Carboxy-Lyases; Female; Genetic Carrier Screening; Homocystinuria; Humans; Infant, Ne | 1980 |