Associated Papers
Diffusion tensor imaging of the brain in Pompe disease.
van den Dorpel JJA et al.
Journal of Neurology, 2023
Is the brain involved in patients with late-onset Pompe disease?
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2022
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA et al.
Orphanet Journal of Rare Diseases, 2022
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
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
30922962 (PubMed )
Supplement: mmc1.pdf
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC et al.
Journal of Inherited Metabolic Disease, 2018
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
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Stepien KM et al.
Molecular Genetics and Metabolism, 2016
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
van der Beek NA et al.
Journal of the Neurological Sciences, 2008
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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