Associated Papers
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA et al.
Orphanet Journal of Rare Diseases, 2022
Investigating Late-Onset Pompe Prevalence in Neuromuscular Medicine Academic Practices: The IPaNeMA Study.
Wencel M et al.
Neurology. Genetics, 2021
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M et al.
Molecules (basel, Switzerland), 2021
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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Benefits of Prophylactic Short-Course Immune Tolerance Induction in Patients With Infantile Pompe Disease: Demonstration of Long-Term Safety and Efficacy in an Expanded Cohort.
Desai AK et al.
Frontiers in Immunology, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Pompe disease in Austria: clinical, genetic and epidemiological aspects.
Löscher WN et al.
Journal of Neurology, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
McIntosh P et al.
American Journal of Medical Genetics. Part A, 2017
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
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
Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis.
Hundsberger T et al.
Journal of Neurology, 2014
In vivo bone architecture in pompe disease using high-resolution peripheral computed tomography.
Khan A et al.
Jimd Reports, 2013
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Bali DS et al.
Muscle & Nerve, 2011
Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study.
van Capelle CI et al.
Neuromuscular Disorders : Nmd, 2010
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
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM et al.
Journal of Neurology, 2009
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
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M et al.
Neurogenetics, 1998
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
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
Sixel BS et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0