Absence of alpha-L-iduronidase activity in various tissues from two sibs affected with presumably the Hurler-Scheie compound syndrome.
D000293:Adolescent; D000328:Adult; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006026:Glycoside Hydrolases / Q000172:deficiency* / Q000378:metabolism; D006801:Humans; D007068:Iduronidase / Q000172:deficiency*; D009083:Mucopolysaccharidoses / Q000201:enzymology*; D008059:Mucopolysaccharidosis I / Q000201:enzymology* / Q000235:genetics; D011247:Pregnancy; D012867:Skin / Q000201:enzymology
D006026:Glycoside Hydrolases; D007068:Iduronidase