Wijburg, F.A.

patient mutation study phenotype disease treatment sanfilippo syndrome enzyme family symptom university metab diagnosis children disorder department genet mps iiia centre protein month table long-chain acid oxidation defects netherland hospital analysis problem methylmalonic mps iii activity screening deficiency mucopolysaccharidosi tyrosine onset hydroxylase attenuated phenotype tyrosine hydroxylase blood cobalamin defect sanfilippo syndrome course mps iiib aciduria attenuated germany outcome therapy l-dopa ficiency pediatrics oxidation dystonia dutch group carnitine range supplementation result cobalamin responsiveness mps iiic brother effect brain novel erasmus university rotterdam type b patients mps iiia patients lysosomal center number missense sister vlcadd allele weber birth