Mucolipidosis II (I-cell disease). A clinical and biochemical study.
D000015:Abnormalities, Multiple; D001707:Biopsy, Needle; D002554:Cerebrosides / Q000652:urine; D002675:Child, Preschool; D003594:Cytoplasmic Granules; D005110:Extracellular Space / Q000201:enzymology; D005347:Fibroblasts; D005696:Galactosidases / Q000378:metabolism; D006025:Glycosaminoglycans / Q000652:urine*; D006026:Glycoside Hydrolases / Q000378:metabolism; D006358:Hot Temperature; D006801:Humans; D006863:Hydrogen-Ion Concentration; D007962:Leukocytes / Q000201:enzymology; D008247:Lysosomes / Q000201:enzymology*; D008297:Male; D008854:Microscopy, Electron; D008059:Mucopolysaccharidosis I / Q000201:enzymology* / Q000473:pathology / Q000652:urine; D016532:Mucopolysaccharidosis II / Q000201:enzymology* / Q000473:pathology / Q000652:urine; D013429:Sulfatases / Q000378:metabolism
D002554:Cerebrosides; D006025:Glycosaminoglycans; D013429:Sulfatases; D005696:Galactosidases; D006026:Glycoside Hydrolases