Mandel, H.

patient disease pompe disease pompe activity treatment group glycogen muscle diagnosis assay rhgaa study baseline infantile-onset pompe disease gaa activity month enzyme 18 months van der ploeg motor genzyme corporation sample blood genzyme support control group kishnani 18 patients analysis control laboratory rhgaa treatment university survival symptom death infantile-onset acarbose corporation blood samples therapy department trial tissue table hospital antibody ventilatory support van diggelen ventilation center storage pediatrics neurology biopsy development week 52 content ventilator use skill muscle glycogen content acid ␣- glucosidase skin fi broblasts enzyme replacement therapy infant fi broblasts blood spots figure genetic glycogen content 6 months result level muscle biopsy motor development ficiency infusion efficacy safety