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Results 1 - 9 of 9 for sachs
  1. Tay-Sachs disease 
    Tay-Sachs disease is a rare, inherited disorder that is characterized by neurological problems caused by the death of ... nervous system).The most common form of Tay-Sachs disease, known as infantile Tay-Sachs disease, becomes ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. GM2 activator deficiency 
    ... GM2 gangliosidosis, AB variant Hexosaminidase activator deficiency Tay-Sachs disease, AB variant Genetic Testing Registry: Tay-Sachs disease, variant AB GM2-gangliosidosis, B, B1, AB ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  3. HEXA gene 
    ... 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 ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  4. Sandhoff disease 
    ... ganglioside. The other two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are ... burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. Orphanet J Rare Dis. 2020 ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  5. HEXB gene 
    ... understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327( ... Tifft CJ, Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics
  6. Why are some genetic conditions more common in particular ethnic groups?: MedlinePlus Genetics 
    ... African, African American, or Mediterranean heritage; and Tay-Sachs disease , which is more likely to occur among ...
    https://medlineplus.gov/.../understanding/inheritance/ethnicgroup - Genetics
  7. Schizoaffective disorder 
    ... Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Laird N, Keshavan ...
    https://medlineplus.gov/genetics/condition/schizoaffective-disorder - Genetics
  8. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... called sickle cell anemia Sjögren-Larsson syndrome Tay-Sachs disease Tyrosinemia Usher syndrome Zellweger spectrum disorder , also ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
  9. Enlarged parietal foramina 
    ... PFM1 PARIETAL FORAMINA 2; PFM2 PubMed Edwards LS, Sachs JR, Elster AD. Skull fractures through parietal foramina: ...
    https://medlineplus.gov/.../condition/enlarged-parietal-foramina - Genetics