Bali, D.

patient disease pompe disease pompe activity enzyme blood assay study screening diagnosis treatment blood spots sample group glycogen muscle rhgaa lysosomal van der ploeg baseline infantile-onset pompe disease storage gaa activity lysosomal storage disorders laboratory month genzyme 18 months fabry disease motor genzyme corporation result kishnani control disorder fabry van diggelen university support control group 18 patients enzyme replacement therapy tandem mass spectrometry analysis ficiency genet therapy rhgaa treatment method quality pediatrics tissue genetic survival center symptom reuser enzyme activity death infantile-onset fi lter paper acarbose corporation metabolism blood samples metab department research hospital table antibody trial ventilatory support ventilation neurology biopsy ventilator use development spectrometry