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Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening.

Lee NC, Chang KL, In 't Groen SLM, de Faria DOS, Huang HJ, Pijnappel WWMP, Hwu WL, Chien YH

The Journal of pediatrics, 2022 May

Abstract

To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS).

doi: S0022-3476(21)01279-8