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
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM et al.
Biomolecules, 2023
37759814 (PubMed )
Supplement: biomolecules-13-01414-s001.zip › Supplementary_Table_S1.pdf
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Morphology and function of cerebral arteries in adults with pompe disease.
Hensel O et al.
Jimd Reports, 2015
Glycogenosome accumulation in the arrector pili muscle in Pompe disease.
Katona I et al.
Orphanet Journal of Rare Diseases, 2014
Enzyme replacement therapy and antibodies in late-onset Pompe disease.
Schneider I et al.
Molecular Genetics and Metabolism Reports, 2014
Prevalence of hearing loss in patients with late-onset Pompe disease: Audiological and otological consequences.
Hanisch F et al.
International Journal of Audiology, 2013
The emerging phenotype of long-term survivors with infantile Pompe disease.
Prater SN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria.
Mendez M et al.
Human Mutation, 2000
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