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
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A et al.
Neuromuscular Disorders : Nmd, 2017
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z et al.
Journal of Inherited Metabolic Disease, 2010
Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
Joshi PR et al.
Journal of Inherited Metabolic Disease, 2008
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