GM1 gangliosidosis is an inherited disorder that destroys nerve cells (neurons) in the brain and spinal cord. This condition ... overlap, leading some researchers to believe that GM1 gangliosidosis occurs on a spectrum instead of as three ...

GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant) is a rare inherited disorder that causes progressive brain injury. Most individuals with GM2 activator deficiency have the acute infantile ...

... GLB1 gene have been found to cause GM1 gangliosidosis. The signs and symptoms of this condition primarily ... protein.The GLB1 gene variants that cause GM1 gangliosidosis produce versions of β-galactosidase that are not ...

... 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 ...

... 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 ...

... people with GM2 activator deficiency (sometimes called GM2 gangliosidosis, AB variant). This is a rare inherited disorder ... DJ. Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta. 1999 Oct 8;1455(2- ...

... 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 ...