Sandhoff disease: diagnosis of heterozygous carriers by serum hexosaminidase assay.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis / Q000201:enzymology*; D002648:Child; D002675:Child, Preschool; D002848:Chromatography, DEAE-Cellulose; D003937:Diagnosis, Differential; D005069:Evaluation Studies as Topic; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood* / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000097:blood / Q000201:enzymology; D008722:Methods; D011489:Protein Denaturation; D013050:Spectrometry, Fluorescence
D006596:Hexosaminidases