Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients.
D000367:Age Factors; D001284:Atrophy; D001706:Biopsy; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D006233:Persons with Disabilities; D004569:Electroencephalography; D004592:Electrophoresis, Starch Gel; D005128:Eye Diseases; D005260:Female; D005654:Fundus Oculi; D005732:Gangliosides / Q000378:metabolism*; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology*; D013216:Reflex, Startle; D012640:Seizures
D005732:Gangliosides; D006596:Hexosaminidases