Associated Papers
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
de Las Heras J et al.
Children (basel, Switzerland), 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 2020
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