Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency.
D000328:Adult; D000794:Angiokeratoma / Q000235:genetics / Q000378:metabolism*; D001706:Biopsy; D004798:Enzymes; D005260:Female; D006017:Glycolipids / Q000378:metabolism*; D006801:Humans; D007413:Intestinal Mucosa / Q000201:enzymology; D007421:Intestine, Small; D008052:Lipid Metabolism, Inborn Errors; D008297:Male; D008875:Middle Aged; D014316:Tritium
D004798:Enzymes; D006017:Glycolipids; D014316:Tritium