Associated Papers
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Carter C et al.
Frontiers in Genetics, 2024
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
Hannah WB et al.
Jimd Reports, 2023
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Smith EC et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2023
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
33717985 (PubMed )
Supplement: mmc1.xlsx › Table_S1
Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.
Khan AA et al.
Journal of Inherited Metabolic Disease, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.
Horvath JJ et al.
Muscle & Nerve, 2015
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
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