Associated Papers
Clinical and genetic spectrums of Pompe disease in Duhok city, Kurdistan region, Iraq.
Haleem AA et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2025
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Babaee M et al.
Bmc Musculoskeletal Disorders, 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
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
A Newborn with Infantile-Onset Pompe Disease Improving after Administration of Enzyme Replacement Therapy: Case Report.
Bor M et al.
Journal of Pediatric Intensive Care, 2022
Molecular Diagnosis of Pompe Disease in the Genomic Era: Correlation with Acid Alpha-Glucosidase Activity in Dried Blood Spots.
Thuriot F et al.
Journal of Clinical Medicine, 2021
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Sidorina A et al.
Journal of Inherited Metabolic Disease, 2021
Newborn Screening for Pompe Disease.
Sawada T 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
Occurrence of nutritional hypocalcaemic rickets-related dilated cardiomyopathy in a child with concomitant rickets and infantile-onset Pompe disease.
Yeşilbaş O et al.
Cardiology in the Young, 2019
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years.
Stepien KM et al.
Molecular Genetics and Metabolism, 2016
Familial Pompe Disease.
Tecellioglu M et al.
Medical Archives (sarajevo, Bosnia and Herzegovina), 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia.
Pérez-López J et al.
Molecular Genetics and Metabolism, 2015
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
Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.
Hahn A et al.
Jimd Reports, 2015
Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study.
de Vries JM et al.
Orphanet Journal of Rare Diseases, 2012
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.
van der Beek NA et al.
Journal of the Neurological Sciences, 2008
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008