Okada, Y.

pompe disease activity disease method pompe αglu activity ba /zn method patient 4 mu -αglc homozygote hemoglobin enzyme fl uorescence intensity screening van der ploeg glycogen blood spots reaction enzyme replacement therapy uorescence assay fi broblasts aa homozygotes lysosomal storage disorders aa /aa glucosidase 37 ° c storage intensity substrate solution blood sample ficiency concentration -αglc japanese lysosomal buffer reagent japan asian populations precipitation hemoglobin precipitation population range genet measurement room temperature barium hydroxide pseudode ph 4.0 protein hemoglobin elimination kumamoto university kumamoto broblast therapy group fi nal concentration 4 ° c glucose 60 μ l reuser individual hydroxide nmol /h protein barium sulfate tandem mass spectrometry diagnosis sample solution effect 5 min metabolism genetic ploeg enzyme activities water reaction mixture