ReviewBiochimica et biophysica acta. General subjects2020
Progress in the understanding and treatment of Fabry disease.
Review in Biochimica et biophysica acta. General subjects, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 3 of them syntheses that pooled it.
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
60 citing papers in PubMed, 3 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Influence of Treatment Effect Modifiers in Fabry Disease: A Systematic Literature Review.Advances in therapy · 2025Pooled it
- Systematic Review of Genetic Substrate Reduction Therapy in Lysosomal Storage Diseases: Opportunities, Challenges and Delivery Systems.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2024Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- The effect of the glucosylceramide synthase inhibitor lucerastat on cardiac repolarization: results from a thorough QT study in healthy subjects.Orphanet journal of rare diseases · 2020Trial
- Unraveling A4GALT Mechanism and Its Modulation With Adamantyl-Galactosylceramide Analogues: Advancing Fabry Disease Therapeutic Strategies.Angewandte Chemie (International ed. in English) · 2026Article
- Nanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease.International journal of pharmaceutics: X · 2026Article
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.Orphanet journal of rare diseases · 2025Article
- Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.Brain & development · 2025Review
- Pathogenesis of Organ Damage in Fabry Disease: The AGALopathy Pathogenetic Pathway.Journal of the American Society of Nephrology : JASN · 2025Article
- Lectin-Based Substrate Detection in Fabry Disease Using the Gb3-Binding Lectins StxB and LecA.International journal of molecular sciences · 2025Article
- Health State Utility Values in Fabry Disease: Insights from the Pegunigalsidase Alfa Clinical Trials.Advances in therapy · 2025Article
- Review
- Targeted nanoliposomes to improve enzyme replacement therapy of Fabry disease.Science advances · 2024Article
- Human Gb3/CD77 synthase: a glycosyltransferase at the crossroads of immunohematology, toxicology, and cancer research.Cellular & molecular biology letters · 2024Review
- Fabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities.Investigative ophthalmology & visual science · 2024Article
- Dysregulation of sphingolipid metabolism in pain.Frontiers in pharmacology · 2024Review
- Fatigue as hallmark of Fabry disease: role of bioenergetic alterations.Frontiers in cardiovascular medicine · 2024Review
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFabry disease is caused by α-galactosidase A deficiency. Substrates of this lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience neuropathic pain, kidney failure, heart disease, and strokes. SCOPE OF REVIEW: The clinical picture and molecular features of Fabry disease are described, along with updates on disease mechanisms, animal models, and therapies. MAJOR
conclusionsHow the accumulation of α-galactosidase A substrates, mainly glycosphingolipids, leads to organ damage is incompletely understood. Enzyme replacement and chaperone therapies are clinically available to patients, while substrate reduction, mRNA-based, and gene therapies are on the horizon. Animal models exist to optimize these therapies and elucidate disease mechanisms for novel treatments. GENERAL SIGNIFICANCE: Recent newborn screening studies demonstrate that Fabry disease is the most common lysosomal storage disease. As many countries now include Fabry disease in their screening panels, the number of identified patients is expected to increase significantly. Better knowledge of disease pathogenesis is needed to improve treatment options.
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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.