The first case of the Sanfilippo type C syndrome in Scandinavia
Research output: Contribution to journal › Article
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.
|Research areas and keywords||
Subject classification (UKÄ) – MANDATORY
|Journal||Acta Paediatrica Scandinavica|
|Publication status||Published - 1983|