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Sanfilippo syndrome type A in two adult sibs
N M Lindor1, A Hoffman, J F O'Brien
1Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.
American Journal of Medical Genetics
|November 15, 1994
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.