ReviewAnnals of translational medicine2019
Pompe disease: what are we missing?
Review in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease.Journal of neuromuscular diseases · 2025Trial
- A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United States.Journal of neuromuscular diseases · 2026Article
- PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.NPJ genomic medicine · 2025Article
- Clinical and therapeutic clues from a long-term follow-up: a single center experience on a large LOPD population.Journal of neurology · 2025Article
- Simultaneous monitoring of glycogen, creatine, and phosphocreatine in type II glycogen storage disease using saturation transfer MRI.Magnetic resonance in medicine · 2025Article
- Beginning of a new era of synthetic messenger RNA therapeutics: Comprehensive insights on mRNA drug design, development and applications.Experimental biology and medicine (Maywood, N.J.) · 2025Review
- Latest Advancements in Treatment Options for Infantile-Onset Pompe Disease: A Comprehensive Narrative Review.Clinical medicine insights. Pediatrics · 2025Review
- [Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo].Revista medica del Instituto Mexicano del Seguro Social · 2024Article
- Review
- Renshen Yangrong decoction for secondary malaise and fatigue: network pharmacology and Mendelian randomization study.Frontiers in nutrition · 2024Article
- Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes.Biology · 2023Review
- From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.International journal of molecular sciences · 2023Review
- Non-specificity of symptoms in infantile-onset Pompe disease may delay the diagnosis and institution of treatment.BMJ case reports · 2022Article
- Article
- Recent Advances in RNA Therapy and Its Carriers to Treat the Single-Gene Neurological Disorders.Biomedicines · 2022Review
- New Insights into Gastrointestinal Involvement in Late-Onset Pompe Disease: Lessons Learned from Bench and Bedside.Journal of clinical medicine · 2021Article
- Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.Biomolecules · 2020Review
- Review
- Late-onset Pompe disease (LOPD) in Belgium: clinical characteristics and outcome measures.Orphanet journal of rare diseases · 2020Article
- Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases.PloS one · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pompe disease is a multisystemic metabolic disorder caused by a deficiency of lysosomal acid alpha-glucosidase (GAA) leading to progressive accumulation of lysosomal glycogen, lysosomal swelling and rupture in all tissues of the human body. Furthermore, autophagic buildup, organelle abnormalities, and energy deficit are regularly observed. Enzyme replacement therapy has been available for patients living with Pompe disease for more than 15 years. Although our disease knowledge has grown enormously, we still have multiple challenges to overcome. Here, I will discuss unmet clinical needs, neglected or overlooked aspects of the pathophysiology, and issues related to future therapies.
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Registered trials
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.