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Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease)

✍ Scribed by Ruijter, J.; Broere, L.; Mulder, M. F.; Ploeg, A. T.; Rubio-Gozalbo, M. E.; Wortmann, S. B.; Visser, G.; Wijburg, F. A.

Book ID
121609794
Publisher
Springer
Year
2013
Tongue
English
Weight
744 KB
Volume
37
Category
Article
ISSN
0141-8955

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πŸ“œ SIMILAR VOLUMES

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. 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