Prasad, S.

patient disease pompe pompe disease scoliosi symptom registry onset month database mutation research van der ploeg variant genetic population pompe registry variation muscle group study history university information symptom onset project history period enzyme replacement therapy assessment diagnosis laboratory phenotype genome late-onset pompe disease 2008. function genet children analysis cardiomyopathy kishnani treatment support pompe registry board health disorder genomic genzyme weakness enzyme medicine status therapy ≤12 effort adult ploeg department method result standard development cancer country progression center van doorn genzyme corporation table sequence activity infant management institute collection variome project glycogen period alglucosidase alfa death