Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.
D000649:Amniocentesis; D000650:Amnion / Q000201:enzymology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002478:Cells, Cultured; D003550:Cystic Fibrosis / Q000201:enzymology; D005347:Fibroblasts / Q000201:enzymology*; D005643:Fucose / Q000378:metabolism; D006026:Glycoside Hydrolases / Q000378:metabolism*; D006801:Humans; D066298:In Vitro Techniques; D008064:Lipidoses / Q000201:enzymology; D008297:Male; D009083:Mucopolysaccharidoses / Q000201:enzymology; D009542:Niemann-Pick Diseases / Q000201:enzymology; D012867:Skin / Q000166:cytology
D005643:Fucose; D006026:Glycoside Hydrolases