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Two cases of mucopolysaccharidosis Type III (Sanfilippo): A biochemical study

✍ Scribed by G. Van Dessel; A. Lagrou; J.J. Martin; C. Ceuterick; W. Dierick


Book ID
118929113
Publisher
Elsevier Science
Year
1979
Tongue
English
Weight
581 KB
Volume
40
Category
Article
ISSN
0022-510X

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πŸ“œ SIMILAR VOLUMES


Clinical heterogeneity in Sanfilippo dis
✍ G. V. Coppa; P. L. Giorgi; L. Felici; O. Gabrielli; E. Donti; S. Bernasconi; H. πŸ“‚ Article πŸ“… 1983 πŸ› Springer 🌐 English βš– 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