E Piesiewicz-Grzonkowska

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A case of a rare form of Sanfilippo disease, mucopolysaccharidosis type III D is presented. The cause of the disease is a deficit of N-acetylglycosamine-6-sulfate sulfatase. Differences in clinical course and symptoms with type A and B Sanfilippo disease are shown (later presentation of symptoms, milder course, lack of distinct psychomotor regression and(More)
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