Results 1 - 10 of 19 for gangliosidosis
  1. GM2-gangliosidosis, AB variant 
    GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.Signs and symptoms ...
    https://medlineplus.gov/.../condition/gm2-gangliosidosis-ab-variant - Genetics
  2. GM1 gangliosidosis 
    GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some ... of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three ...
    https://medlineplus.gov/genetics/condition/gm1-gangliosidosis - Genetics
  3. Gangliosidoses From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to ...
    https://www.ninds.nih.gov/.../disorders/gangliosidoses - External Health Links
  4. Tay-Sachs disease 
    Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. ... Tay-Sachs disease occurs when ...
    https://medlineplus.gov/ency/article/001417.htm - Medical Encyclopedia
  5. GLB1 gene 
    ... GLB1 gene have been found to cause GM1 gangliosidosis. Most mutations change single DNA building blocks (nucleotides) ... binding protein.GLB1 gene mutations that cause GM1 gangliosidosis reduce or eliminate the activity of β-galactosidase. ...
    https://medlineplus.gov/genetics/gene/glb1 - Genetics
  6. Tay-Sachs disease 
    ... as a lysosomal storage disorder or a GM2-gangliosidosis. HEXA This condition is inherited in an autosomal ... and symptoms of the condition. B variant GM2 gangliosidosis GM2 gangliosidosis, type 1 HexA deficiency Hexosaminidase A ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  7. GM2A gene 
    ... gene have been identified in people with GM2-gangliosidosis, AB variant. Some of these variants change single ... DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...
    https://medlineplus.gov/genetics/gene/gm2a - Genetics
  8. Sandhoff disease 
    ... as a lysosomal storage disorder or a GM2-gangliosidosis. Sandhoff disease is one of three conditions caused ... conditions are called Tay-Sachs disease and GM2-gangliosidosis, AB variant, which are caused by variants in ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  9. Lipid Storage Diseases From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
    https://www.ninds.nih.gov/.../disorders/lipid-storage-diseases - External Health Links
  10. Mucopolysaccharidosis type IV 
    ... of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients. J Lipid Res. 2007 ... gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for ...
    https://medlineplus.gov/.../condition/mucopolysaccharidosis-type-iv - Genetics
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