《英文msh词典》Hexosaminidase Activator Protein Deficiency Disease
[入口词] Hexosaminidase Activator Protein Deficiency Disease
[主题词] Gangliosidoses GM2
[英文释义] Inherited diseases characterized by the accumulation of G(M2) GANGLIOSIDE in central nervous system lysosomes and variably in other tissues. Subtypes include TAY-SACHS DISEASE and SANDHOFF DISEASE,as well as an AB variant of BETA-N-ACETYLHEXOSAMINIDASE deficiency and an adult onset form of GM2 Gangliosidosis.