Associated Papers
Unexplained Progressive Respiratory Insufficiency and Weakness Diagnosed as Late-Onset Pompe Disease Through Biochemical and Molecular Genetic Testing.
Furuta Y et al.
The Neurohospitalist, 2025
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.
Seppälä EH et al.
Plos One, 2013
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Kroos M et al.
Human Mutation, 2012
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
Carlier RY et al.
Neuromuscular Disorders : Nmd, 2011
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Orlikowski D et al.
Neuromuscular Disorders : Nmd, 2011
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Bali DS et al.
Muscle & Nerve, 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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