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The first case of the Sanfilippo type C syndrome in Scandinavia

På svenska

Author

  • J Arvidsson
  • Alan Chester
  • H Hecht

Summary, in English

A Swedish patient with typical symptoms of the Sanfilippo Syndrome (Mucopolysaccharidosis III) is described. The early onset of the disease, the presence of hepatomegaly, early dementia and the absence of umbilical bernia are consistent with the subgroup Sanfilippo A. Enzyme studies indicate the diagnosis Sanfilippo C, and thus the patient represents a more severe form of this subgroup than any of the four other patients hitherto described in detail.

Publishing year

1983

Language

English

Pages

313-316

Publication/Series

Acta Paediatrica Scandinavica

Volume

72

Issue

2

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Keywords

  • acetyl-CoA: glucosamine N-acetyltransferase
  • Sanfilippo C
  • Mucopolysaccharidosis

Status

Published

ISBN/ISSN/Other

  • ISSN: 0001-656X