Sanfilippo syndrome type A in two adult sibs
- 15 November 1994
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 53 (3) , 241-244
- https://doi.org/10.1002/ajmg.1320530308
Abstract
We report on 2 adult sibs with Sanfilippo syndrome type A (MPS IIIA; deficiency of heparin sulfamidase) who were less functionally impaired than other reported individuals with this disorder. These individuals expand our understanding of the range of clinical expression that one may see in Sanfilippo syndrome type A.Keywords
This publication has 4 references indexed in Scilit:
- Management of mucopolysaccharidosis type III.Archives of Disease in Childhood, 1993
- Follow‐up on seven adult patients with mild Sanfilippo B‐diseaseAmerican Journal of Medical Genetics, 1987
- Sanfilippo Disease, Type A with some Features of Ceroid LipofuscinosisNeuropediatrics, 1985
- Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)Clinical Genetics, 1981