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
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Wencel M et al.
Neurology. Genetics, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
34405923 (PubMed )
Supplement: HUMU-42-1461-s001.pdf
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
de Vries JM et al.
Orphanet Journal of Rare Diseases, 2012
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
van Capelle CI et al.
Neuromuscular Disorders : Nmd, 2010
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
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop.
Huie ML et al.
American Journal of Medical Genetics, 1999
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