[Clinical and neuropathological observations on a familial disease with mental retardation, myoclonus and neuronal accumulation of gangliosides].
D001479:Basal Ganglia / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics*; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism; D005260:Female; D005732:Gangliosides / Q000378:metabolism*; D006017:Glycolipids / Q000378:metabolism; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D009438:Neuraminic Acids / Q000378:metabolism; D010743:Phospholipids / Q000378:metabolism
D005732:Gangliosides; D006017:Glycolipids; D009438:Neuraminic Acids; D010743:Phospholipids; D002784:Cholesterol
Osservazioni cliniche e neuropatologiche su una forma familiare con ritardo mentale, mioclonie e accumulo neuronale di gangliosidi