Sandhoff's disease (GM 2  gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients.
D001923:Brain Chemistry; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005732:Gangliosides / Q000032:analysis; D006026:Glycoside Hydrolases / Q000097:blood / Q000378:metabolism; D006596:Hexosaminidases / Q000378:metabolism; D006644:Histiocytes; D006801:Humans; D007223:Infant; D007668:Kidney / Q000032:analysis / Q000473:pathology; D008064:Lipidoses / Q000175:diagnosis* / Q000473:pathology; D008055:Lipids / Q000032:analysis; D008099:Liver / Q000032:analysis; D008297:Male; D009420:Nervous System / Q000473:pathology; D012867:Skin / Q000201:enzymology; D013154:Spleen / Q000032:analysis; D013577:Syndrome
D005732:Gangliosides; D008055:Lipids; D006026:Glycoside Hydrolases; D006596:Hexosaminidases