Abstract
Clinical, radiological and biochemical findings of two new cases of Sanfilippo disease, type D are reported. A high percentage of heparan sulfate was found in the urinary glycosaminoglycan pattern and a severe deficiency of N-acetylglucosamine-6-sulfate sulfatase was demonstrated in skin cultured fibroblasts from the patients. One of the patients presented mild intellectual impairment which differentiates him from the other cases described to date.
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This work was supported by a grant from National Research Council (C.N.R.), Program of Preventive Medicine (Subproject of Neonatal Preventive Medicine), Ct. no. 81.00371.83
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Coppa, G.V., Giorgi, P.L., Felici, L. et al. Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases. Eur J Pediatr 140, 130–133 (1983). https://doi.org/10.1007/BF00441662
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DOI: https://doi.org/10.1007/BF00441662