Associated Papers
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
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
Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study.
Semplicini C et al.
Journal of Inherited Metabolic Disease, 2018
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
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease.
Gallay L et al.
Neuromuscular Disorders : Nmd, 2016
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
Carlier RY et al.
Neuromuscular Disorders : Nmd, 2011
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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