Natural history of Sanfilippo syndrome in Spain
Por:
Delgadillo V, O'Callaghan-Gordo M, Gort L, Coll MJ and Pineda M
Publicada:
6 dic 2013
Resumen:
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulphate. Four MPS III types have been recognized, characterized by a large phenotypic heterogeneity. This is the first Spanish study describing the natural history of Sanfilippo patients (MPSIIIA, MPSIIIB and MPSIIIC), representing an essential step for understanding patient prognosis and for the establishment and application of future therapies.
|