Valstar, M.J.

patient mutation sanfilippo study syndrome phenotype disease mps iiia family problem mps iii genet mucopolysaccharidosi enzyme attenuated phenotype netherland novel sanfilippo syndrome table course mps iiib attenuated diagnosis symptom mps iiic brother missense beesley dutch metab development change mps iiia patients analysis speech sister sanfilippo syndrome type weber therapy p.s 298p mutation lysosomal protein allele mucopolysaccharidosis type iiia activity death center .1080delc delay hgsnat 15 novel mutations ruijter deletion storage motor heparan identification amsterdam valstar department filippo mps iii patients range combination behavioural problems sulfate sulfamidase blood –brain barrier compound hopwood deterioration mps iiid treatment heparan sulfate epilepsy sequence university c .1080delc transplantation mps iiic patients