Tay-Sachs Disease, AB Variant
A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein.
推出的年份: 2005(2000)
树号: C10.228.140.163.100.435.825.300.300.750, C16.320.565.189.435.825.300.300.750, C16.320.565.398.641.803.350.300.925, C16.320.565.595.554.825.300.300.920, C18.452.132.100.435.825.300.300.750, C18.452.584.563.641.803.350.300.925, C18.452.648.189.435.825.300.300.750, C18.452.648.398.641.803.350.300.925, C18.452.648.595.554.825.300.300.920
MeSH 单一 ID: D049290
进入的组:
Tay Sachs Disease, AB Variant
Activator Deficiency GM2 Gangliosidosis
Gangliosidosis GM2, Type AB
GM2 Activator Deficiency Disease
GM2 Protein Activator Deficiency Disease
AB Variant Gangliosidosis GM2
Hexosaminidase Activator Protein Deficiency Disease
Hexosaminidase Activator Deficiency
Activator Deficiencies, Hexosaminidase
Activator Deficiency, Hexosaminidase
Deficiencies, Hexosaminidase Activator
Deficiency, Hexosaminidase Activator
Hexosaminidase Activator Deficiencies
AB Variant GM2-Gangliosidosis
AB Variant GM2 Gangliosidosis
AB Variant GM2-Gangliosidoses
GM2-Gangliosidoses, AB Variant
Variant GM2-Gangliosidoses, AB
Variant GM2-Gangliosidosis, AB
GM2 Activator Deficiency
Activator Deficiencies, GM2
Activator Deficiency, GM2
Deficiencies, GM2 Activator
Deficiency, GM2 Activator
GM2 Activator Deficiencies
GM2-Gangliosidosis, AB Variant
GM2 Gangliosidosis, AB Variant
Activator-Deficient Tay-Sachs Disease
Activator Deficient Tay Sachs Disease
Activator-Deficient Tay-Sachs Diseases
Disease, Activator-Deficient Tay-Sachs
Diseases, Activator-Deficient Tay-Sachs
Tay-Sachs Disease, Activator-Deficient
Tay-Sachs Diseases, Activator-Deficient
GM2 Gangliosidosis, Type AB
Deficiency Disease, GM2 Protein Activator
Gangliosidosis GM2, AB Variant
早前的内容:
Gangliosidoses (2000-2004)
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