Sanfilippo syndrome type A in two adult sibs

N. M. Lindor, A. Hoffman, J. F. O'Brien, N. P. Hanson, J. N. Thompson

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)241-244
Number of pages4
JournalAmerican journal of medical genetics
Issue number3
StatePublished - 1994


  • MPS
  • heparin sulfamidase deficiency
  • mucopolysaccharidosis

ASJC Scopus subject areas

  • Genetics(clinical)


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