Fabry's disease: normal alpha-galactosidase activity and urinary-sediment glycosphingolipid levels in two obligate heterozygotes.
D001789:Blood Group Antigens; D002518:Ceramides / Q000652:urine; D002648:Child; D002675:Child, Preschool; D005260:Female; D005696:Galactosidases / Q000097:blood*; D006017:Glycolipids / Q000378:metabolism*; D006579:Heterozygote; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D013107:Sphingolipids / Q000378:metabolism* / Q000652:urine
D001789:Blood Group Antigens; D002518:Ceramides; D006017:Glycolipids; D013107:Sphingolipids; D005696:Galactosidases