Ruijter, G.J.G.

patient mutation disease glucose uptake enzyme mucopolysaccharidosi growth study lysosomal syndrome sanfilippo assay activity storage problem mps iiia genet therapy protein culture glucose uptake blood mps iii diagnosis sulfate netherland disorder hydrops fetalis sample hydrop phenotype cartilage table concentration analysis metab value dilution chemostat development function matrix effect novel fetali treatment mps patients glucose uptake assays family result sanfilippo syndrome reference range growth plate mps iiic substrate lysosomal storage diseases tissue lysosomal storage disorders heparan plate symptom dutch chondrocyte reference strain blood spots mucopolysaccharidose chemostat cultures hearing mucopolysaccharidosis type vi mps iiia patients model strain sialic mucopolysaccharidosis vi speech genetic osteoclast sanfilippo syndrome type