Poorthuis, B.J.

patient mutation sanfilippo syndrome study disease phenotype mps iiia family problem mps iii genet mucopolysaccharidosi enzyme netherland attenuated phenotype novel diagnosis sanfilippo syndrome hydrops fetalis table hydrop course mps iiib attenuated symptom mps iiic metab brother analysis fetali activity missense beesley dutch development protein mps iiia patients change lysosomal sister speech sanfilippo syndrome type weber disorder therapy p.s 298p mutation ruijter combination department allele death mucopolysaccharidosis type iiia cdg-ia center delay .1080delc blood hgsnat lysosomal storage diseases deletion 15 novel mutations university identification storage motor heparan amsterdam glycosylation type ia mps iii patients range filippo valstar birth report behavioural problems sulfamidase sulfate glycosylation blood –brain barrier