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doi: 10.1016/j.jaad.2004.05.019

The last database update was performed on 1 October 2025

Sandhoff disease (GM2 Gangliosidosis with stored GM2 Ganglioside) using targeted enzyme replacement therapy with beta-hexosaminidase A, or substrate inhibition of glucosylceramide synthase using imino sugars (e.g., miglustat (Zavesca marketed by Actelion) = N-butyl-deoxynojirimycin (NB-DNJ))

doi: 10.1155/2013/714653 83 MakishimaM.OkamotoA
