Clinical heterogeneity in Sanfilippo dis
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G. V. Coppa; P. L. Giorgi; L. Felici; O. Gabrielli; E. Donti; S. Bernasconi; H.
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Article
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1983
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Springer
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English
β 634 KB
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 fi