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Results 1 - 7 of 7 for "Tay-Sachs" disease
  1. 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 ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. GM2 activator deficiency 
    ... condition. GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency Tay-Sachs disease, AB variant Genetic Testing Registry: Tay-Sachs disease, ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  3. HEXA gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  4. Sandhoff disease 
    ... 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( ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  5. HEXB gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  6. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... also called sickle cell anemia Sjögren-Larsson syndrome Tay-Sachs disease Tyrosinemia Usher syndrome Zellweger spectrum disorder , also called ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  7. Why are some genetic conditions more common in particular ethnic groups?: MedlinePlus Genetics 
    ... of African, African American, or Mediterranean heritage; and Tay-Sachs disease , which is more likely to occur among people ...
    https://medlineplus.gov/.../understanding/inheritance/ethnicgroup - Genetics