Associated Papers
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
Zimmermann M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
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
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
Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease.
Hensel O et al.
Orphanet Journal of Rare Diseases, 2018
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Muscle ultrasound in classic infantile and adult Pompe disease: a useful screening tool in adults but not in infants.
Vill K et al.
Neuromuscular Disorders : Nmd, 2015
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
Respiratory function in late-onset Pompe disease patients receiving long-term enzyme replacement therapy for more than 48 months.
Schneider I et al.
Wiener Medizinische Wochenschrift (1946), 2013
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