The first case of the Sanfilippo type C syndrome in Scandinavia

Research output: Contribution to journalArticle

Abstract

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.

Details

Authors
  • J Arvidsson
  • Alan Chester
  • H Hecht
Organisations
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology

Keywords

  • acetyl-CoA: glucosamine N-acetyltransferase, Sanfilippo C, Mucopolysaccharidosis
Original languageEnglish
Pages (from-to)313-316
JournalActa Paediatrica Scandinavica
Volume72
Issue number2
Publication statusPublished - 1983
Publication categoryResearch
Peer-reviewedYes