Mucopolysaccharidosis VI (Maroteaux-Lamy disease). Clinical and biochemical study of a mild variant case.
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging; D002807:Chondroitin / Q000378:metabolism* / Q000652:urine; D004596:Electroretinography; D005145:Face; D005347:Fibroblasts / Q000032:analysis / Q000201:enzymology; D005654:Fundus Oculi; D014644:Genetic Variation; D006025:Glycosaminoglycans / Q000032:analysis; D006311:Hearing Disorders / Q000150:complications; D006493:Heparin / Q000652:urine; D006801:Humans; D007360:Intelligence; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis* / Q000378:metabolism; D010859:Pigmentation Disorders / Q000150:complications; D011859:Radiography; D012867:Skin / Q000166:cytology; D013429:Sulfatases / Q000652:urine; D013431:Sulfates / Q000032:analysis; D013577:Syndrome; D014792:Visual Acuity
D006025:Glycosaminoglycans; D013431:Sulfates; D006493:Heparin; D002807:Chondroitin; D013429:Sulfatases