Serum hexosaminidase activity in I-cell disease carriers.
Serum heat stable hexosaminidase activities are used to identify 47-I-cell disease heterozygotes in a large kindred. Serum beta-hexosaminidase isozyme patterns in normal individuals, Tay-Sachs disease carriers, I-cell disease carriers and in cord blood samples are compared.
D003238:Connective Tissue / Q000378:metabolism; D005312:Fetal Blood; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D008064:Lipidoses / Q000201:enzymology; D008661:Metabolism, Inborn Errors / Q000201:enzymology* / Q000235:genetics; D010375:Pedigree
D007527:Isoenzymes; D006596:Hexosaminidases