gm2 gangliosidoses การใช้

• However, the three GM2 gangliosidoses were discovered and named separately.
• It is associated with GM2 gangliosidoses such as Tay-Sachs disease.
• It is the most common of the GM2 gangliosidoses.
• Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal.
• Mutations in the alpha or beta subunit genes lead to an accumulation of GM2 ganglioside in neurons and neurodegenerative disorders termed the GM2 gangliosidoses.
• Inability of HEXB will lead to?-hexosaminidase defect and result in a group of recessive disorders called GM2 gangliosidoses, characterized by the accumulation of GM2 ganglioside.
• Tay-Sachs is not " also known as GM2 gangliosidosis "; it is one of the three GM2 gangliosidoses . talk ) 05 : 25, 30 May 2009 ( UTC)
• :* " 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.
• :: : : GM2 gangliosidoses are the same disease clinically, but the three sub-types ( of which TSD is the most famous ) can be distinguished by enzyme assay and mutation analysis.
• The three diseases are classified together as the GM2 gangliosidoses, because each disease represents a distinct molecular point of failure in the activation of the same enzyme, beta-hexosaminidase . "'AB variant "'is caused by a failure in the gene that makes an enzyme cofactor for beta-hexosaminidase, called the GM2 activator.