Associated Papers
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2026
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_S3
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM et al.
Biomolecules, 2023
37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Carrasco-Rozas A et al.
The American Journal of Pathology, 2022
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
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Figueroa-Bonaparte S et al.
Scientific Reports, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Al-Hassnan ZN et al.
Molecular Genetics and Metabolism Reports, 2018
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S et al.
Plos One, 2016
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E et al.
Molecular Genetics and Metabolism, 0
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