Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation.
D000135:Acid Phosphatase / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D000469:Alkaline Phosphatase / Q000378:metabolism; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging; D005696:Galactosidases / Q000378:metabolism; D005966:Glucuronidase / Q000378:metabolism; D006025:Glycosaminoglycans / Q000032:analysis / Q000378:metabolism / Q000652:urine; D006026:Glycoside Hydrolases / Q000378:metabolism; D006801:Humans; D006820:Hyaluronic Acid / Q000032:analysis; D008607:Intellectual Disability / Q000150:complications*; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D008358:Mannose; D011859:Radiography; D012863:Skeleton / Q000002:abnormalities*; D012867:Skin / Q000201:enzymology; D013053:Spectrophotometry
D006025:Glycosaminoglycans; D006820:Hyaluronic Acid; D000469:Alkaline Phosphatase; D000135:Acid Phosphatase; D005696:Galactosidases; D006026:Glycoside Hydrolases; D005966:Glucuronidase; D008358:Mannose