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"Tay-Sachs" disease
- Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death of ... central nervous system).The most common form of Tay-Sachs disease, known as infantile Tay-Sachs disease, becomes apparent ...
- ... condition. GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency Tay-Sachs disease, AB variant Genetic Testing Registry: Tay-Sachs disease, ...
- ... 210 variants (also known as mutations) that cause Tay-Sachs disease have been identified in the HEXA gene. Tay-Sachs disease is a condition that is characterized by movement ...
- ... GM2 ganglioside. The other two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are caused ... on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. Orphanet J Rare Dis. 2020 Apr 15;15( ...
- ... B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327(5): ... Y, Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
- ... also called sickle cell anemia Sjögren-Larsson syndrome Tay-Sachs disease Tyrosinemia Usher syndrome Zellweger spectrum disorder , also called ...
- ... of African, African American, or Mediterranean heritage; and Tay-Sachs disease , which is more likely to occur among people ...