Associated Papers
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Avalglucosidase alfa in infantile-onset Pompe disease: A snapshot of real-world experience in Italy.
Fiumara A et al.
Molecular Genetics and Metabolism Reports, 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
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P et al.
Current Issues in Molecular Biology, 2023
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Gal A et al.
Life (basel, Switzerland), 2021
Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.
Vanherpe P et al.
Orphanet Journal of Rare Diseases, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study.
Confalonieri M et al.
Orphanet Journal of Rare Diseases, 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
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2018
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
Next generation sequencing detection of late onset pompe disease.
Angelini C et al.
Muscle & Nerve, 2016
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG et al.
Human Mutation, 2008
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Schoser BG et al.
Neuropathology and Applied Neurobiology, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Müller-Felber W et al.
Neuromuscular Disorders : Nmd, 2007