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gangliosidosis
- GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.Signs and symptoms ...
- 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 ...
- The gangliosidoses are a group of inherited metabolic diseases caused by a deficiency of the different proteins needed to ...
- Tay-Sachs disease is a life-threatening disease of the nervous system passed down through families. ... Tay-Sachs disease occurs when ...
- ... 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. ...
- ... 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 ...
- ... 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- ...
- ... 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 ...
- Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
- ... 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 ...