Katafuchi, T.

activity disease patient pompe disease pompe screening enzyme method homozygote blood spots van der ploeg enzyme replacement therapy αglu activity lysosomal storage disorders ba /zn method japanese storage glycogen assay group 4 mu -αglc aaglu activity japan blood hemoglobin fl uorescence intensity ficiency population lysosomal aaglu control frequency sample substrate enzyme activity individual gsdii kumamoto range reaction tandem mass spectrometry newborn genet therapy uorescence allele fi broblasts aa homozygotes aa /aa glucosidase 37 ° c pseudode procedure intensity reuser measurement room temperature kumamoto university metabolism genetic replacement disorder solution 4 ° c fi lter paper analysis concentration -αglc ploeg patient group result buffer reagent c .1726g asian populations diplotype .1726g à20 ° c van diggelen precipitation