Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity.

類似資料

• GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.
  著者:: Tanaka, A, 等
  出版事項: (1990)
• Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.
  著者:: Conzelmann, E, 等
  出版事項: (1983)
• Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.
  著者:: Inui, K, 等
  出版事項: (1983)
• AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2.
  著者:: Conzelmann, E, 等
  出版事項: (1978)
• Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.
  著者:: Schepers, U., 等
  出版事項: (1996)