A case of GM2-gangliosidosis with total hexosaminidase deficiency.
D001921:Brain / Q000378:metabolism; D002675:Child, Preschool; D003677:Deficiency Diseases / Q000150:complications; D003937:Diagnosis, Differential; D005260:Female; D005732:Gangliosides / Q000378:metabolism*; D006017:Glycolipids / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006595:Hexosamines / Q000378:metabolism; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D008064:Lipidoses / Q000175:diagnosis*; D008099:Liver / Q000378:metabolism; D013154:Spleen / Q000378:metabolism
D005732:Gangliosides; D006017:Glycolipids; D006595:Hexosamines; D006026:Glycoside Hydrolases