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Results 1 - 10 of 12 for GM2 gangliosidosis
  1. GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.Signs and symptoms ...
  2. Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. ... Tay-Sachs disease occurs when ...
  3. ... to as a lysosomal storage disorder or a GM2-gangliosidosis. HEXA This condition is inherited in an autosomal ... signs and symptoms of the condition. B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A ...
  4. ... to as a lysosomal storage disorder or a GM2-gangliosidosis. Sandhoff disease is one of three conditions caused ... two conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are caused by variants in ...
  5. ... GM2A gene have been identified in people with GM2-gangliosidosis, AB variant. Some of these variants change single ... Mahuran DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...
  6. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health ... Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism ...
  7. ... D'Azzo A, Tifft CJ. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy. Pediatr Endocrinol ...
  8. Degenerative Nerve Diseases (National Library of Medicine)  
    Degenerative nerve diseases affect many of your body's activities, such as balance, movement, talking, breathing, and heart function. Many of these diseases are genetic. ...
  9. Tay-Sachs Disease (National Library of Medicine)  
    Tay-Sachs disease is a rare, inherited disease. It is a type of lipid metabolism disorder. It causes too much of a fatty substance to build up in the brain. ...
  10. ... Ninomiya H, Doi H. Structural basis of the GM2 gangliosidosis B variant. J Hum Genet. 2003;48(11): ...
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