Early initiation of enzyme replacement therapy as facilitated by newborn screening improves health outcomes among patients with infantile-onset Pompe disease.

Genetics in Medicine Open
2025
https://researcherprofiles.org/profile/757533171
41536902
Desai AK, Rodriguez-Rassi E, Parikh S, Russo RS, Kronn D, Hamm JA, Chang IJ, Ortiz D, McPheron M, Lydigsen H, DeArmey S, Young SP, Kishnani PS