Associated Papers
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Monceau A et al.
Brain : a Journal of Neurology, 2024
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Follow-up analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2018
Analysis of voice quality in patients with late-onset Pompe disease.
Szklanny K et al.
Orphanet Journal of Rare Diseases, 2016
Bioimpedance Analysis as a Method to Evaluate the Proportion of Fatty and Muscle Tissues in Progressive Myopathy in Pompe Disease.
Różdżyńska-Świątkowska A et al.
Jimd Reports, 2016
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Berrier KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
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
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