Associated Papers
When the Diaphragm Fails: Visual Hallucinations Due to Isolated Respiratory Muscle Weakness as a First Manifestation of Late-Onset Pompe Disease.
Van Lierde C et al.
European Journal of Case Reports in Internal Medicine, 2025
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G et al.
Orphanet Journal of Rare Diseases, 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
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease.
Fiege L et al.
Pharmaceuticals (basel, Switzerland), 2023
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Case report: Chronic pain in a pediatric patient with late-onset pompe disease.
Cao A et al.
Frontiers in Pain Research (lausanne, Switzerland), 2023
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Goomber S et al.
Frontiers in Genetics, 2022
Phenotypic implications of pathogenic variant types in Pompe disease.
Viamonte MA et al.
Journal of Human Genetics, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY et al.
European Journal of Human Genetics : Ejhg, 2021
Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.
de Faria DOS et al.
Human Mutation, 2021
Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease-an MRI study.
Vaeggemose M et al.
Peerj, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
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
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Kazi ZB et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.
Herbert M et al.
Molecular Genetics and Metabolism, 2019
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Ripolone M et al.
Neuropathology and Applied Neurobiology, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
Rairikar MV et al.
Molecular Genetics and Metabolism, 2017
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.
Mori M et al.
Jimd Reports, 2017
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 2016
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Bergsma AJ et al.
Human Mutation, 2015