Klerk, J.B. de

patient treatment disease creatine activity study glucosidase blood enzyme month pompe disease effect cobalamin defect muscle metab department pompe rotterdam onset brain blood spots pediatrics level lysosomal diagnosis assay netherland 4 patients university hospital symptom children methylmalonic rhaglu analysis ammonia mutation cobalamin responsiveness outcome screening therapy control storage glycine protein erasmu aciduria deficiency genet score survival hyperinsulinism table crtr defect mut 0 patients rabbit synthesis glycogen mmauria method responsiveness metabolism erasmus rotterdam glutamine result glucosidase activity transporter 40 mg /kg blood ammonia levels concentration measurement enzyme replacement therapy glutamate function rabbit milk birth decade syndrome creatine synthesis hyperammonemia