Clinical, biochemical, and ultrastructural studies in a  case of chondrodystrophy presenting the I-cell phenotype in tissue culture.
D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D046508:Culture Techniques; D003594:Cytoplasmic Granules; D005149:Facial Expression; D005347:Fibroblasts / Q000201:enzymology; D005696:Galactosidases / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D006867:Hydrolases / Q000378:metabolism; D002479:Inclusion Bodies; D008607:Intellectual Disability / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008099:Liver / Q000201:enzymology / Q000473:pathology; D008297:Male; D008854:Microscopy, Electron; D008858:Microscopy, Phase-Contrast; D008059:Mucopolysaccharidosis I / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D012867:Skin / Q000473:pathology
D006025:Glycosaminoglycans; D006867:Hydrolases; D005696:Galactosidases