Associated Papers
An integrative correlation of myopathology, phenotype and genotype in late onset Pompe disease.
Kulessa M et al.
Neuropathology and Applied Neurobiology, 2020
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
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Seven cases of Pompe disease from Greece.
Kroos M et al.
Journal of Inherited Metabolic Disease, 2006
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M et al.
Neurogenetics, 1998
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