The first case of the Sanfilippo type C syndrome in Scandinavia
Författare
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.
Publiceringsår
1983
Språk
Engelska
Sidor
313-316
Publikation/Tidskrift/Serie
Acta Paediatrica Scandinavica
Volym
72
Issue
2
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Wiley-Blackwell
Ämne
- Hematology
Nyckelord
- acetyl-CoA: glucosamine N-acetyltransferase
- Sanfilippo C
- Mucopolysaccharidosis
Status
Published
ISBN/ISSN/Övrigt
- ISSN: 0001-656X