Biochemical and genetic studies in two families with Fabry disease.
D000328:Adult; D000368:Aged; D002518:Ceramides / Q000652:urine; D002675:Child, Preschool; D002855:Chromatography, Thin Layer; D000795:Fabry Disease / Q000097:blood / Q000201:enzymology / Q000235:genetics / Q000378:metabolism* / Q000652:urine; D005260:Female; D005696:Galactosidases / Q000097:blood*; D006017:Glycolipids / Q000652:urine*; D006596:Hexosaminidases / Q000097:blood*; D006801:Humans; D007962:Leukocytes / Q000201:enzymology*; D008297:Male
D002518:Ceramides; D006017:Glycolipids; D005696:Galactosidases; D006596:Hexosaminidases