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Reduced "beta-hexosaminidase" activity
- ... HEXA gene variants that eliminate or severely reduce beta-hexosaminidase A enzyme function likely lead to the infantile form of Tay-Sachs disease, and variants that allow some residual enzyme activity tend to cause the juvenile or late-onset ...
- Lipid Storage Diseases (National Institute of Neurological Disorders and Stroke)Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease