Kamphoven, J.H.J.

disease patient muscle pompe glucosidase enzyme glycogen study enzyme replacement therapy storage treatment lysosomal heart therapy month lv dp /dtmax activity replacement function model rabbit milk mouse wt mice alpha-glucosidase van der ploeg pressure rabbit protein 40 mg /kg tissue reuser deficiency rhaglu glucosidase activity receptor ko mice chapter lysosomal glycogen storage pompe disease lvw /bw baseline weight uptake hearing hearing loss glycogen storage ploeg infusion effect mutation development lysosomal storage disorders mannose production increase infant mouse model acid maltase deficiency m 6p receptor table blood fibroblast knockout glycogenosi response level muscle function animal analysis glycogenosis type ii 12 weeks pathology lysosomal enzymes knockout mouse model section condition patient 1 acid alpha-glucosidase change liver