Kishnani, P.S.

patient disease pompe pompe disease scoliosi study symptom treatment month registry onset group van der ploeg baseline muscle infantile-onset pompe disease enzyme replacement therapy late-onset pompe disease enzyme glycogen alglucosidase alfa therapy assessment kishnani function death pompe registry cardiomyopathy analysis children alglucosidase motor genzyme corporation table status survival rhgaa ventilation genzyme history late-onset diagnosis symptom onset 18 patients infant control replacement trial history period period activity support control group adult genetic university age 36 mo 18 months ploeg extension study infantile-onset pompe registry board antibody weakness corporation abnormality ≤12 skill center development mass index alglucosidase alfa treatment acid ␣- glucosidase result number progression van doorn analyses rhgaa treatment safety