Associated Papers
Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2026
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning.
van den Dorpel JJA et al.
Journal of Inherited Metabolic Disease, 2024
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ et al.
Neuromuscular Disorders : Nmd, 2024
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY et al.
Orphanet Journal of Rare Diseases, 2023
Physical training and high-protein diet improved muscle strength, parent-reported fatigue, and physical quality of life in children with Pompe disease.
Scheffers LE et al.
Journal of Inherited Metabolic Disease, 2023
Diffusion tensor imaging of the brain in Pompe disease.
van den Dorpel JJA et al.
Journal of Neurology, 2023
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C et al.
Molecular Genetics and Metabolism, 2017
Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle CI et al.
Orphanet Journal of Rare Diseases, 2016
Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function.
Figueroa-Bonaparte S et al.
Plos One, 2016
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Bergsma AJ et al.
Human Mutation, 2015
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
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
Carlier RY et al.
Neuromuscular Disorders : Nmd, 2011
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Orlikowski D et al.
Neuromuscular Disorders : Nmd, 2011