gangliosidosis造句

• GM2-gangliosidosis, AB variant is extremely rare.
• Beta subunit gene mutations lead to Sandhoff disease ( GM2-gangliosidosis type II ).
• "' GM2-gangliosidosis, AB variant "'is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord.
• Tay-Sachs is not " also known as GM2 gangliosidosis "; it is one of the three GM2 gangliosidoses . talk ) 05 : 25, 30 May 2009 ( UTC)
• By the end of 1979, researchers had identified three variant forms of GM2 gangliosidosis, including Sandhoff disease and the AB variant of GM2-gangliosidosis, accounting for false negatives in carrier testing.
• By the end of 1979, researchers had identified three variant forms of GM2 gangliosidosis, including Sandhoff disease and the AB variant of GM2-gangliosidosis, accounting for false negatives in carrier testing.
• :* " GM2 gangliosidoses " says that it is not an alias for TSD, but is a broader term that also includes Sandhoff disease and GM2-gangliosidosis, AB variant.
• Mutations in this gene, inherited in an autosomal recessive pattern, result in GM2-gangliosidosis, AB variant, a rare GM2 gangliosidosis that has symptoms and pathology identical with Tay-Sachs disease and Sandhoff disease.
• Mutations in this gene, inherited in an autosomal recessive pattern, result in GM2-gangliosidosis, AB variant, a rare GM2 gangliosidosis that has symptoms and pathology identical with Tay-Sachs disease and Sandhoff disease.
• Mammalian beta-galactosidase is a lysosomal enzyme ( gene GLB1 ) which cleaves the terminal galactose from gangliosides, glycoproteins, and glycosaminoglycans and whose deficiency is the cause of the genetic disease Gm ( 1 ) gangliosidosis ( Morquio disease type B ).
• For example, Tay-Sachs disease, GM2-gangliosidosis, AB variant, and Sandhoff disease might easily have been defined together as a single disease, because the three disorders are associated with failure of the same enzyme and have the same outcome.
• Genetic defects in " HEXB " can result in the accumulation of GM2 ganglioside in neural tissues and two of three lysosomal storage diseases collectively known as GM2 gangliosidosis, of which Sandhoff disease ( defects in the " ? " subunit ) is the best studied one.
• Signs and symptoms of GM2-gangliosidosis, AB variant are identical with those of infantile Tay-Sachs disease, except that enzyme assay testing shows normal levels of hexosaminidase A . Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B . Infants with this disorder typically appear normal until the age of 3 to 6 months, when development slows and muscles used for movement weaken.
• "' Sandhoff disease "', also known as "'Sandhoff-Jatzkewitz disease "', "'variant 0 of GM2-Gangliosidosis "'or "'Hexosaminidase A and B deficiency "', is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B . These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from Tay-Sachs disease, another genetic disorder that disrupts beta-hexosaminidases A and S . There are three subsets of Sandhoff disease based on when first symptoms appear : classic infantile, juvenile and adult late onset.