Diggelen, O.P. van

patient disease mutation activity enzyme pompe disease pompe storage lysosomal glycogen study muscle protein assay diagnosis genet blood analysis control sanfilippo fi broblasts ficiency brain screening syndrome table sample university deficiency netherland result mps iiia broblast dutch sequence glucosidase disorder acarbose substrate a-glucosidase symptom blood spots therapy lap /acp phenotype lysosomal storage disorders mucopolysaccharidosi problem ceroid lipofuscinosis van der ploeg leukocyte treatment laboratory change novel report expression mps iii method van diggelen family enzyme replacement therapy biopsy reuser deletion department metabolism acid a-glucosidase activity ceroid month genetic mps iiic development center concentration sanfilippo syndrome metab hgsnat glycogenosis type ii group