Article
Hunter syndrome (Muccopolysaccharridosis Type II) in Macedonia and Bulgaria.
Prilozi - 1 Jan 2011
Gucev Z S, Tasic V, Sinigerska I, Kremensky I, Tincheva R, Pop-Jordanova N, Danilovski D, Hofer D, Paschke E
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis II (MPS II) is caused by a deficiency of iduronate-2-sulfatase (IDS; EC 3.1.6.13). METHODS AND RESULTS: We describe 11 boys from Bulgaria and Macedonia detected in the period from 1998 to 2008. The mean age at diagnosis was 4.77+/-1.29 years. All children were severely retarded: IQ ranged from 34-80, and they all had coarse faces and hepatomegaly. In addition, splenomegaly was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.