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 journalArticle

13 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)241-244
Number of pages4
JournalAmerican journal of medical genetics
Volume53
Issue number3
DOIs
StatePublished - 1994

Keywords

  • MPS
  • heparin sulfamidase deficiency
  • mucopolysaccharidosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Lindor, N. M., Hoffman, A., O'Brien, J. F., Hanson, N. P., & Thompson, J. N. (1994). Sanfilippo syndrome type A in two adult sibs. American journal of medical genetics, 53(3), 241-244. https://doi.org/10.1002/ajmg.1320530308