Associated Papers
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
40225932 (PubMed )
Supplement: 6248437.f2.xlsx › Supplementary_Table_S4
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening.
Jackson DG et al.
Molecular Genetics and Metabolism Reports, 2023
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang H et al.
International Journal of Neonatal Screening, 2020
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