Associated Papers
Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.
Gragnaniello V et al.
Reports (mdpi), 2026
Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.
Mongini T et al.
Journal of Neurology, 2025
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
Facing the challenges to shorten the diagnostic odyssey: first Whole Genome Sequencing experience of a Colombian cohort with suspected rare diseases.
Velasco HM et al.
European Journal of Human Genetics : Ejhg, 2024
Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.
Castellar-Leones SM et al.
Journal of Medical Case Reports, 2024
Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V et al.
Molecular Genetics & Genomic Medicine, 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
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM et al.
Revista De Neurologia, 2022
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 2021
Whole-exome sequencing of the mummified remains of Cangrande della Scala (1291-1329 CE) indicates the first known case of late-onset Pompe disease.
Iadarola B et al.
Scientific Reports, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Gal A et al.
Life (basel, Switzerland), 2021
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 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
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
Investigation on acute effects of enzyme replacement therapy and influence of clinical severity on physiological variables related to exercise tolerance in patients with late onset Pompe disease.
Sechi A et al.
Neuromuscular Disorders : Nmd, 2017
Evolution of the Insertion-Deletion Mutation Rate Across the Tree of Life.
Sung W et al.
G3 (bethesda, Md.), 2016
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
Hundsberger T et al.
Journal of Neurology, 2014
Atrio-ventricular block requiring pacemaker in patients with late onset Pompe disease.
Sacconi S et al.
Neuromuscular Disorders : Nmd, 2014
Enzyme replacement therapy in juvenile glycogenosis type II: a longitudinal study.
Deroma L et al.
European Journal of Pediatrics, 2014
Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations.
Fu L et al.
Gene, 2014
[Clinical characteristics and prognosis of infantile-onset glycogen storage disease type II in 16 Chinese patients].
Fu LJ et al.
Zhonghua Yi Xue Za Zhi, 2013
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Prenatal diagnosis of Pompe disease: enzyme assay or molecular testing?
Prajnya R et al.
Indian Pediatrics, 2011
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II.
Angelini C et al.
Therapeutic Advances in Neurological Disorders, 2009
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG et al.
Human Mutation, 2008
Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency.
Nascimbeni AC et al.
Neurology, 2008
[Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China].
Qiu JJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2007
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.
Gort L et al.
Molecular Genetics and Metabolism, 0