[Amaurotic familial idiocy within the scope of GM2-gangliosidosis. Apropos of a case of Sandhoff's disease studied on the clinical, neuropathological, enzymatic, and genetic levels].
D001344:Autopsy; D001921:Brain / Q000201:enzymology / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis; D049672:History, 19th Century; D049673:History, 20th Century; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008064:Lipidoses / Q000175:diagnosis* / Q000235:genetics / Q000266:history; D009474:Neurons / Q000473:pathology; D010375:Pedigree; D013116:Spinal Cord / Q000473:pathology
D006596:Hexosaminidases
Les idioties amaurotiques familiales dans le cadre des GM2-gangliosidoses. A propos d'un cas de maladie de Sandhoff étudié sur les plans cliniques, neuropathologique, enzymatique et génétique