Associated Papers
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Fiumara A et al.
Molecular Genetics and Metabolism Reports, 2024
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P et al.
Current Issues in Molecular Biology, 2023
Infantile Pompe disease with intrauterine onset: a case report and literature review.
Xi H et al.
Italian Journal of Pediatrics, 2022
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E et al.
Scientific Reports, 2016
27812025 (PubMed )
Supplement: srep36182-s1.pdf
Genotype-phenotype correlation in Pompe disease, a step forward.
De Filippi P et al.
Orphanet Journal of Rare Diseases, 2014
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Can genes influencing muscle function affect the therapeutic response to enzyme replacement therapy (ERT) in late-onset type II glycogenosis?
Ravaglia S et al.
Molecular Genetics and Metabolism, 2012
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Angelini C et al.
Journal of Neurology, 2012
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
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