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

✍ Scribed by G. V. Coppa; P. L. Giorgi; L. Felici; O. Gabrielli; E. Donti; S. Bernasconi; H. Kresse; E. Paschke; C. Mastropaolo

Publisher: Springer
Year: 1983
Tongue: English
Weight: 634 KB
Volume: 140
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00441662

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✦ Synopsis

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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📂 Article 📅 1964 🏛 John Wiley and Sons 🌐 English ⚖ 141 KB 👁 1 views