Associated Papers
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Babaee M et al.
Bmc Musculoskeletal Disorders, 2024
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Monceau A et al.
Brain : a Journal of Neurology, 2024
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Pfrimmer C et al.
Journal of Neuromuscular Diseases, 2024
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
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
Screening for late-onset Pompe disease in Poland.
Jastrzębska A et al.
Acta Neurologica Scandinavica, 2019
Genetic basis of hypertrophic cardiomyopathy in children.
Rupp S et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019
High Sustained Antibody Titers in Patients with Classic Infantile Pompe Disease Following Immunomodulation at Start of Enzyme Replacement Therapy.
Poelman E et al.
The Journal of Pediatrics, 2018
Late-onset pompe disease in Iran: A clinical and genetic report.
Nazari F et al.
Muscle & Nerve, 2017
Quantification of muscle pathology in infantile Pompe disease.
Schänzer A et al.
Neuromuscular Disorders : Nmd, 2017
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
Swift G et al.
Jimd Reports, 2017
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 2016
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
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