ArticleJournal of neurology2015
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 3 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 3 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Cardiac magnetic resonance in Pompe disease: a systematic literature review.La Radiologia medica · 2026Pooled it
- Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a 'Treatabolome'.Journal of neuromuscular diseases · 2021Pooled it
- Forced vital capacity and cross-domain late-onset Pompe disease outcomes: an individual patient-level data meta-analysis.Journal of neurology · 2019Pooled it
- Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.Human gene therapy. Clinical development · 2017Trial
- Identifying regulatory muscle processes in infantile and adult Pompe patients using a multi-omic and morphological approach.Brain pathology (Zurich, Switzerland) · 2026Article
- Nociceptive pain in late-onset Pompe disease: prevalence, distribution, and clinical correlates.Journal of neurology · 2026Article
- A stable GH31 α-glucosidase as a model system for the study of mutations leading to human glycogen storage disease type II.Journal of enzyme inhibition and medicinal chemistry · 2025Article
- Analysis of the Italian cohort of late-onset Pompe disease (LOPD) patients after 10 and 15 years of therapy with alglucosidase alfa.Journal of neurology · 2025Observational
- Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.Italian journal of pediatrics · 2025Article
- Exploring Quality of Life in Adults Living With Late-onset Pompe Disease: A Combined Quantitative and Qualitative Analysis of Patient Perceptions from Australia, France, Italy, and the Netherlands.Journal of health economics and outcomes research · 2025Article
- Sensory neuropathy in patients with Pompe disease: a case series in Iran.BMC musculoskeletal disorders · 2024Article
- Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.Molecular genetics and metabolism reports · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- A Comprehensive Update on Late-Onset Pompe Disease.Biomolecules · 2023Review
- Small fiber involvement is independent from clinical pain in late-onset Pompe disease.Orphanet journal of rare diseases · 2022Article
- Article
- A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.Journal of neuromuscular diseases · 2022Review
- A Systematic Review and Meta-Analysis of Enzyme Replacement Therapy in Late-Onset Pompe Disease.Journal of clinical medicine · 2021Review
- Intracranial aneurysm management in patients with late-onset Pompe disease (LOPD).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.Orphanet journal of rare diseases · 2021Observational
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease is a rare metabolic disorder, due to mutations in the gene encoding acid alpha-glucosidase (GAA), of which infantile and late-onset forms may occur. Aim of the work was to analyze clinical and laboratory data of a cohort of late-onset Pompe disease (LOPD) patients, collected during the last 15 years and to point out unusual phenotypic/genotypic features as well as enzyme replacement therapy (ERT) responses. We diagnosed 30 LOPD patients; at follow-up, they underwent motor, respiratory, cardiac and muscle MRI evaluations. Motor performances were tested by Walton Gardner-Medwin, GSGC and 6MWT tests. Respiratory function was assessed as FVC% in upright/supine position. LOPD presentations were represented by presymptomatic hyperCKemia (37%), proximal/axial muscle weakness (53%) and respiratory impairment (10%). Median diagnostic delay was 8.6 years (± 8.8). Atypical features were observed in 4 patients: marked distal muscle weakness and severe hearing loss at onset, as well as leukoencephalopathy and mesial temporal sclerosis during the disease course. By GAA sequence analysis, two causing mutations were detected in 22/30 patients, only one in the remaining 8 subjects. Overall, 29/30 patients harbored the common c.-32-13T>G mutation (2 were homozygous). Two new DNA variations were discovered (c.2395C>G, c.1771C>T). 14 patients received ERT for up to 60 months. Our study confirms LOPD clinical and genetic heterogeneity: atypical features may contribute to expand the clinical phenotype highlighting its multi-systemic nature. A timely diagnosis could allow early ERT start. An accurate follow-up is recommended to evaluate treatment responses.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.