Sanfilippo B syndrome: molecular defects in Greek patients.

  title={Sanfilippo B syndrome: molecular defects in Greek patients.},
  author={Clare E. Beesley and Marina S Moraitou and Bryan Winchester and Kleopatra H. Schulpis and Evagelia Dimitriou and Helen M Michelakakis},
  journal={Clinical genetics},
  volume={65 2},
Sanfilippo syndrome type B [mucopolysaccharidosis IIIB (MPS IIIB] is the most prevalent type of MPS III in Greece, accounting for 81% of all MPS III cases diagnosed at the Institute of Child Health (Athens) over the last 20 years. The majority of the patients originated from East Central/Central Greece, Thessaly, and Macedonia. We present the results of mutation analysis in 21 Greek patients from 18 different families, all of whom had the severe form of the disorder. Patients were initially… CONTINUE READING


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