Associated Papers
Lessons from late-onset Pompe disease identified by Newborn screening: A systematic review.
Boueri M et al.
Molecular Genetics and Metabolism, 2026
New advances in treating late-onset Pompe Disease: A narrative review.
Khan M et al.
European Journal of Pediatrics, 2025
Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports.
Feng Q et al.
Medicine, 2024
Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease.
Zhao Y et al.
Orphanet Journal of Rare Diseases, 2024
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease.
Fiege L et al.
Pharmaceuticals (basel, Switzerland), 2023
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
Clinical manifestations and acid alpha-glucosidase mutation characterisation of a cohort of patients with late-onset Pompe disease in eastern China.
Zhao HH et al.
Annals of Translational Medicine, 2021
Pharmacological Chaperone Therapy for Pompe Disease.
Borie-Guichot M et al.
Molecules (basel, Switzerland), 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 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 follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
van der Meijden JC et al.
Journal of Inherited Metabolic Disease, 2018
Pompe Disease: From Basic Science to Therapy.
Kohler L et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
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
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.
Lukas J et al.
Journal of Visualized Experiments : Jove, 2017
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells.
van der Wal E et al.
Molecular Therapy. Nucleic Acids, 2017
Clinical manifestation of late onset Pompe disease patients in Hong Kong.
Chu YP et al.
Neuromuscular Disorders : Nmd, 2016
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study.
Peng SS et al.
Orphanet Journal of Rare Diseases, 2016
[Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II].
Ding J et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Liu X et al.
Bmc Medical Genetics, 2014
Screening for late-onset Pompe disease in Finland.
Palmio J et al.
Neuromuscular Disorders : Nmd, 2014
Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.
Nayak S et al.
Plos One, 2014
The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease.
Khanna R et al.
Plos One, 2014
Pompe disease: from pathophysiology to therapy and back again.
Lim JA et al.
Frontiers in Aging Neuroscience, 2014
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY et al.
Journal of Inherited Metabolic Disease, 2012
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.
Khanna R et al.
Plos One, 2012
Management of a pregnancy complicated by pompe disease.
Weida J et al.
Case Reports in Obstetrics and Gynecology, 2012
Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.
Shimada Y et al.
Molecular Genetics and Metabolism, 2011
New insights into therapeutic options for Pompe disease.
Richard E et al.
Iubmb Life, 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
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Labrousse P et al.
Molecular Genetics and Metabolism, 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
A novel mutation of the GAA gene in a Finnish late-onset Pompe disease patient: clinical phenotype and follow-up with enzyme replacement therapy.
Korpela MP et al.
Muscle & Nerve, 2009
Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.
Van der Beek NA et al.
Neuromuscular Disorders : Nmd, 2009
Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
Joshi PR et al.
Journal of Inherited Metabolic Disease, 2008
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Schoser B et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2008
Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid alpha-glucosidase (alglucosidase alfa): insight into the complex formation mechanism.
Yoshimizu M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II.
Okumiya T et al.
Molecular Genetics and Metabolism, 2007
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
van den Hout HM et al.
Pediatrics, 2003
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Ausems MG et al.
Journal of Medical Genetics, 2001