Juvenile GM2 gangliosidosis. Biochemical and ultrastructural studies on a new variant of Tay-Sachs disease.
D001706:Biopsy; D001921:Brain / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D001923:Brain Chemistry; D002540:Cerebral Cortex / Q000378:metabolism; D002675:Child, Preschool; D003594:Cytoplasmic Granules; D003937:Diagnosis, Differential; D005260:Female; D005625:Frontal Lobe / Q000032:analysis; D005732:Gangliosides / Q000378:metabolism*; D006017:Glycolipids / Q000032:analysis; D006026:Glycoside Hydrolases / Q000032:analysis; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications* / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D008064:Lipidoses / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D008055:Lipids / Q000032:analysis; D008854:Microscopy, Electron; D009474:Neurons / Q000166:cytology; D012867:Skin / Q000201:enzymology
D005732:Gangliosides; D006017:Glycolipids; D008055:Lipids; D006026:Glycoside Hydrolases