title: A new metabolic disorder: myopathy with glycosamino(sialo)glycans accumulation.
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D005944:Glucosamine / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006025:Glycosaminoglycans / Q000378:metabolism*; D006595:Hexosamines / Q000378:metabolism; D006601:Hexoses / Q000378:metabolism; D006801:Humans; D008190:Lyases / Q000378:metabolism; D008297:Male; D008661:Metabolism, Inborn Errors / Q000378:metabolism* / Q000473:pathology; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism* / Q000473:pathology; D009136:Muscular Dystrophies / Q000378:metabolism* / Q000473:pathology; D009210:Myofibrils / Q000378:metabolism*; D009438:Neuraminic Acids / Q000378:metabolism; D009439:Neuraminidase / Q000378:metabolism; D010504:Periodic Acid; D011506:Proteins / Q000378:metabolism; D012545:Schiff Bases; D013194:Staining and Labeling; D014574:Uronic Acids / Q000378:metabolism
chemical_list: D006025:Glycosaminoglycans; D006595:Hexosamines; D006601:Hexoses; D009438:Neuraminic Acids; D011506:Proteins; D012545:Schiff Bases; D014574:Uronic Acids; D010504:Periodic Acid; D006003:Glycogen; D009439:Neuraminidase; D000251:Adenosine Triphosphatases; D008190:Lyases; D005944:Glucosamine