Loonen, M.C.B.

patient acid maltase deficiency maltase disease muscle glycogen deficiency activity enzyme pompe acid maltase activity study examination storage glycogen storage disease month heart value urine chapter biopsy heterozygote glucosidase control family acid maltase tissue weakness diagnosis fibroblast table infant result figure liver rotterdam ratio muscle tissue assay dutch pompe disease mutation glycogen storage literature vacuole department muscle biopsy treatment dutch patients number parent fibre tendon reflexes leucocyte therapy protein method range lysosomal university abnormality maltose 4 patients obligate heterozygotes hospital index dutch patient group control value quadriceps biopsy finding strength glucosidase activity history erasmus university engel glycogenosis type ii serum enzyme replacement therapy rhaglu subject