Associated Papers
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31086307 (PubMed )
Supplement: 41436_2019_527_MOESM5_ESM.docx
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Poelman E et al.
The Journal of Pediatrics, 2018
B-Cell depletion and immunomodulation before initiation of enzyme replacement therapy blocks the immune response to acid alpha-glucosidase in infantile-onset Pompe disease.
Elder ME et al.
The Journal of Pediatrics, 2013
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