Morphological and biochemical findings in a case of mucopolysaccharidosis type III A (Sanfilippo's disease type A).
Morphological and biochemical autopsy findings of a 12 year old girl with mucopolysaccharidosis type III (Sanfilippo's syndrome).  The clinically suspected diagnosis was biochemically ascertained before the patients death.  The autopsy findings obtained by biochemical and by light and electron microscopic investigations of different organs are compared with the results of other authors.
D001344:Autopsy; D002490:Central Nervous System / Q000473:pathology; D002648:Child; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005838:Genotype; D005966:Glucuronidase / Q000032:analysis; D006025:Glycosaminoglycans / Q000652:urine; D006493:Heparin; D006497:Heparan Sulfate / Q000032:analysis; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D006867:Hydrolases / Q000032:analysis; D008607:Intellectual Disability / Q000201:enzymology / Q000378:metabolism*; D008099:Liver / Q000473:pathology; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000201:enzymology / Q000378:metabolism* / Q000473:pathology; D013577:Syndrome
D005966:Glucuronidase; D006025:Glycosaminoglycans; D006493:Heparin; D006497:Heparan Sulfate; D006596:Hexosaminidases; D006867:Hydrolases