[GM2 gangliosidosis with total beta-N-acetyl-hexosaminidase deficit or Sandhoff's disease].
D001707:Biopsy, Needle; D001921:Brain / Q000473:pathology; D001923:Brain Chemistry; D002855:Chromatography, Thin Layer; D005732:Gangliosides / Q000032:analysis / Q000097:blood; D006017:Glycolipids / Q000032:analysis / Q000097:blood; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000097:blood / Q000145:classification / Q000201:enzymology / Q000473:pathology; D008099:Liver / Q000473:pathology; D008661:Metabolism, Inborn Errors; D008854:Microscopy, Electron
D005732:Gangliosides; D006017:Glycolipids; D006596:Hexosaminidases
La gangliosidose GM2 avec déficit complet en beta-N-acetyl-hexosaminidase ou maladie de Sandhoff.