6533b832fe1ef96bd129abbd
RESEARCH PRODUCT
Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT)
Eugen MengelAns T. Van Der PloegPranoot TanpaiboonSimon JonesZsuzsanna DevecseriPriya S. KishnaniYin-hsiu ChienAshok VellodiDavid W. StocktonSuma P. ShankarNancy D. LeslieBarry J. ByrneJudy KempfJulia B. HennermannJoan Keutzersubject
medicine.medical_specialtyNewborn screeningPediatricsbusiness.industryEndocrinology Diabetes and MetabolismEnzyme replacement therapyDiseaseBiochemistryEndocrinologyClinical diagnosisDevelopmental MilestoneGeneticsPhysical therapymedicineMuscle strengthInfantile onsetbusinessMolecular Biologydescription
s S62 strength in the arms (pulls self to stand: 72% vs 47%) and legs (bears weight on legs: 79% vs 66%). Results were similar when patients from Taiwan, who may have been identifi ed by newborn screening and not clinical diagnosis, were excluded. Earlier initiation of ERT in classic IOPD patients appears to improve the chances of survival and leads to better retention of muscle strength and improvement of symptoms in these young patients affected most severely by Pompe disease.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2014-02-01 | Molecular Genetics and Metabolism |