Wevers, R.A.

patient mutation phenotype disease sialic sialic acid study mps iiia family attenuated phenotype sanfilippo attenuated syndrome problem fi ve patients mps iiib brother genet netherland p.s 298p mutation course mps iiia patients change missense sister cafsa .1080delc erasmus university rotterdam weber table mucopolysaccharidosi center cerebellar ataxia ataxia combination symptom mps iii cohort cerebellar compound cafsa patients novel disorder death delay motor brain diagnosis sanfilippo syndrome c .1080delc amsterdam body fl uids analysis abnormality university allele speech range cousin neu 5ac mps iiib patients matter sialic acid metabolism metabolism ability group elevation salla salla patients nerve neuropathy valstar metab transferrin epilepsy development mucopolysaccharidosis type iiia 1 allele cerebrospinal fl uid epimerase