Sanfilippo disease (mucopolysaccharidosis type III) presenting as transient renal tubular dysfunction

Clinical heterogeneity in Sanfilippo dis

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

✍ G. V. Coppa; P. L. Giorgi; L. Felici; O. Gabrielli; E. Donti; S. Bernasconi; H. 📂 Article 📅 1983 🏛 Springer 🌐 English ⚖ 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