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Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases
- Source :
- European Journal of Pediatrics; April 1983, Vol. 140 Issue: 2 p130-133, 4p
- Publication Year :
- 1983
-
Abstract
- 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.
Details
- Language :
- English
- ISSN :
- 03406199 and 14321076
- Volume :
- 140
- Issue :
- 2
- Database :
- Supplemental Index
- Journal :
- European Journal of Pediatrics
- Publication Type :
- Periodical
- Accession number :
- ejs17006708
- Full Text :
- https://doi.org/10.1007/BF00441662