Associated Papers
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
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
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Ditters IAM et al.
Biomolecules, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
Anaesthetic implications for Pompe disease. A case description.
Ruano Santiago M et al.
Revista Espanola De Anestesiologia Y Reanimacion, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
BNIP3 Is Involved in Muscle Fiber Atrophy in Late-Onset Pompe Disease Patients.
Carrasco-Rozas A et al.
The American Journal of Pathology, 2022
Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease.
Tarallo A et al.
Embo Molecular Medicine, 2021
Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.
Hernández-Arévalo P et al.
Orphanet Journal of Rare Diseases, 2021
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Li C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi O et al.
Journal of Molecular Neuroscience : Mn, 2020
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa.
Gragnaniello V et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2019
Genetic basis of hypertrophic cardiomyopathy in children.
Rupp S et al.
Clinical Research in Cardiology : Official Journal of the German Cardiac Society, 2019
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.
Adadi N et al.
Journal of Medical Case Reports, 2018
Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study.
Figueroa-Bonaparte S et al.
Scientific Reports, 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
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
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S et al.
Plos One, 2016
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort.
Gutiérrez-Rivas E et al.
Neuromuscular Disorders : Nmd, 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
A new assay for fast, reliable CRIM status determination in infantile-onset Pompe disease.
Wang Z et al.
Molecular Genetics and Metabolism, 2014
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Banugaria SG et al.
Plos One, 2013
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A et al.
Neuromuscular Disorders : Nmd, 2012
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
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.
Palmer RE et al.
Neuromuscular Disorders : Nmd, 2007
Study of the effect of anti-rhGAA antibodies at low and intermediate titers in late onset Pompe patients treated with ERT.
Fernández-Simón E et al.
Molecular Genetics and Metabolism, 0