Associated Papers
Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis.
Chien YH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Management of presymptomatic juvenile patients with late-onset Pompe disease (LOPD).
Porcino M et al.
Neuromuscular Disorders : Nmd, 2025
Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants.
Pushkov A et al.
Frontiers in Molecular Biosciences, 2025
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Monceau A et al.
Brain : a Journal of Neurology, 2024
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 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
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
A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.
Picillo E et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 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
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
Hannah WB et al.
Jimd Reports, 2023
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
Pompe disease in China: clinical and molecular characteristics.
Li J et al.
Frontiers in Cardiovascular Medicine, 2023
Bioimpedance Phase Angle as a Prognostic Tool in Late-Onset Pompe Disease: A Single-Centre Prospective Study With a 15-year Follow-Up.
Ravaglia S et al.
Frontiers in Cell and Developmental Biology, 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
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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 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
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Galeotti A et al.
Orphanet Journal of Rare Diseases, 2020
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C et al.
International Journal of Neonatal Screening, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 2020
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
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L et al.
Bmc Medical Genetics, 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
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
Cardiac Murmur in a Boy with Normal Paternal Prenatal Carrier Screening for Pompe Disease.
Jay AM et al.
Case Reports in Pediatrics, 2019
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Al-Hassnan ZN et al.
Molecular Genetics and Metabolism Reports, 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
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
Late-onset Pompe disease: a genetic-radiological correlation on cerebral vascular anomalies.
Pichiecchio A et al.
Journal of Neurology, 2017
Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease.
Swift G et al.
Jimd Reports, 2017
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
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).
Montagnese F et al.
Journal of Inherited Metabolic Disease, 2016
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 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
Long-term prognosis of patients with infantile-onset Pompe disease diagnosed by newborn screening and treated since birth.
Chien YH et al.
The Journal of Pediatrics, 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
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F et al.
Journal of Neurology, 2015
A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
Remiche G et al.
Journal of Neurology, 2014
Pompe disease: early diagnosis and early treatment make a difference.
Chien YH et al.
Pediatrics and Neonatology, 2013
[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
Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients.
Musumeci O et al.
Molecular Genetics and Metabolism, 2012