Fabry's disease: absence of an  -galactosidase isozyme.
D002458:Cell Fractionation; D002460:Cell Line; D004592:Electrophoresis, Starch Gel; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000302:isolation & purification*; D006017:Glycolipids / Q000378:metabolism*; D006579:Heterozygote; D006720:Homozygote; D006358:Hot Temperature; D006801:Humans; D007527:Isoenzymes / Q000302:isolation & purification*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology*; D013577:Syndrome
D006017:Glycolipids; D007527:Isoenzymes; D005696:Galactosidases