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Am J Med Genet. 1994 Nov 15;53(3):241-4.

Sanfilippo syndrome type A in two adult sibs.

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1
Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905.

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.

PMID:
7856659
DOI:
10.1002/ajmg.1320530308
[Indexed for MEDLINE]
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