Pseudo-Hurler polydystrophy (mucolipidosis 3). A clinical, biochemical and ultrastructural study.
D000135:Acid Phosphatase / Q000097:blood; D000328:Adult; D001706:Biopsy; D002807:Chondroitin / Q000378:metabolism; D004547:Elastic Tissue / Q000473:pathology; D004596:Electroretinography; D005260:Female; D005347:Fibroblasts; D005696:Galactosidases / Q000097:blood; D005966:Glucuronidase / Q000097:blood; D006023:Glycoproteins / Q000652:urine; D006026:Glycoside Hydrolases / Q000097:blood; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis / Q000201:enzymology / Q000378:metabolism / Q000473:pathology; D008059:Mucopolysaccharidosis I / Q000175:diagnosis*; D014792:Visual Acuity
D006023:Glycoproteins; D002807:Chondroitin; D000135:Acid Phosphatase; D005696:Galactosidases; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D005966:Glucuronidase