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Results 1 - 7 of 7 for "Tay-Sachs" "disease," b "variant," infantile form
  1. Tay-Sachs disease 
    ... hexosaminidase A enzyme function likely lead to the infantile form of Tay-Sachs disease, and variants that allow some residual enzyme activity ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  2. Tay-Sachs disease 
    ... every 27 people carries the Tay-Sachs gene. Tay-Sachs disease is divided into infantile, juvenile, and adult forms, depending on the symptoms and when they first ...
    https://medlineplus.gov/ency/article/001417.htm - Medical Encyclopedia
  3. HEXA gene 
    ... beta-hexosaminidase A. These variants cause a severe form of Tay-Sachs disease, known as infantile Tay-Sachs disease, which appears in infancy. Other ...
    https://medlineplus.gov/genetics/gene/hexa - Genetics
  4. Sandhoff disease 
    ... symptoms first appear: infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and ... organs (organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  5. GM2 activator deficiency 
    ... individuals with GM2 activator deficiency have the acute infantile form of the disease. Signs and symptoms of acute ... with an eye examination, is characteristic of the infantile form of this disorder. Infants with acute infantile GM2 ...
    https://medlineplus.gov/genetics/condition/gm2-activator-deficiency - Genetics
  6. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Leukodystrophies/Specifics ... Leukodystrophies ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease ... Lipid ...
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  7. HEXB gene 
    ... B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. J Mol Biol. 2003 Apr 11;327(5): ... J, Rostami P. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients ...
    https://medlineplus.gov/genetics/gene/hexb - Genetics