[Sandhoff's disease: clinical and genetic study of a French-Canadian child].
D003241:Consanguinity; D003937:Diagnosis, Differential; D004586:Electrophoresis; D005133:Eye Movements; D005260:Female; D005654:Fundus Oculi; D005732:Gangliosides / Q000378:metabolism*; D005817:Genetic Counseling; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D007223:Infant; D007962:Leukocytes / Q000032:analysis; D008064:Lipidoses / Q000175:diagnosis; D009043:Motor Activity; D010375:Pedigree; D013106:Sphingolipidoses / Q000097:blood / Q000175:diagnosis* / Q000235:genetics
D005732:Gangliosides; D006596:Hexosaminidases
Maladie de Sandhoff: étude clinique et génétique chez une enfant canadienne-française