[Sandhoff's disease (GM2 gangliosidosis, type 2). Clinical, biochemical and anatomo-clinical study].
D001706:Biopsy; D002540:Cerebral Cortex / Q000032:analysis / Q000473:pathology; D002855:Chromatography, Thin Layer; D005347:Fibroblasts / Q000378:metabolism; D006017:Glycolipids / Q000032:analysis / Q000097:blood / Q000652:urine; D006596:Hexosaminidases / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000097:blood* / Q000201:enzymology / Q000235:genetics; D008099:Liver / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors; D008854:Microscopy, Electron; D010525:Peripheral Nerves / Q000473:pathology; D012867:Skin / Q000473:pathology
D006017:Glycolipids; D006596:Hexosaminidases
Maladie de Sandhoff (Gangliosidose á GM2, de type 2). Etude clinique, biochimique et anatomo-pathologique.