Associated Papers
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 2020
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL et al.
Molecular Genetics and Metabolism, 0
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