Jong, G. de

patient disease bilirubin serum glucosidase study mutation treatment muscle pompe disease level serum bilirubin 4 patients rotterdam pompe enzyme rhaglu month hfe mutations rabbit glycogen therapy glucosidase activity 40 mg /kg serum bilirubin levels enzyme replacement therapy rabbit milk netherland effect mortality production bilirubin levels h 63d mutation 20 mg /kg erasmu genotype women serum iron indices development activity hemochromatosi analysis erasmus mc storage hfe genotypes signi ficantly infant hfe c 282y c 282y heterozygotes alpha-glucosidase c 282y mutation muscle function 4 years protein oxidative stress erasmus mc-sophia function number 1 year 12 weeks reuser aj baseline table lysosomal signi fabry disease homozygote patient 3 van der ploeg iron overload infusion motor 110- kda precursor subject h 63d homozygotes tissue heterozygote efficacy antioxidant inclusion