Associated Papers
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
41586034 (PubMed )
Supplement: JMD2-67-e70060-s001.xlsx › JIMD_03.04.2025_Supp_Table_1
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2024
White matter brain lesions in infantile-onset Pompe disease are not metabolically active using 18F-FDG PET/MR imaging.
Claeys KG et al.
Neuromuscular Disorders : Nmd, 2020
Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi O et al.
Journal of Molecular Neuroscience : Mn, 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
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
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Ebbink BJ et al.
Developmental Medicine and Child Neurology, 2018
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
van Gelder CM et al.
Journal of Inherited Metabolic Disease, 2015
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM et al.
Journal of Neurology, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.
Van den Hout JM et al.
Pediatrics, 2004
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