ReviewOrphanet journal of rare diseases2013
Fibrosis: a key feature of Fabry disease with potential therapeutic implications.
Review in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 81 papers, 3 of them syntheses that pooled it.
What it found
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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.
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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
81 citing papers in PubMed, 3 syntheses or guidelines pooled it, 154 citations in OpenAlex.
- Effects of Enzyme Replacement Therapy on Cardiac MRI Findings in Fabry Disease: A Systematic Review and Meta-Analysis.Radiology. Cardiothoracic imaging · 2024Pooled it
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Journal of medical genetics · 2017Trial
- NovelJournal of clinical medicine · 2026Review
- Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease.Cells · 2026Review
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Fabry disease in females: organ involvement and clinical outcomes compared with the general population (103/150 characters).Orphanet journal of rare diseases · 2025Review
- Multidisciplinary Care Model as a Center of Excellence for Fabry Disease: A Practical Guide to Diagnosis and Management by Clinical Specialty in South Korea.Journal of clinical medicine · 2025Review
- Therapeutic effects of lomerizine on vasculopathy in Fabry disease.Scientific reports · 2025Article
- The Role of Kidney Biopsy in Fabry Disease.Biomedicines · 2025Review
- The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease.BMC nephrology · 2025Article
- Identification of a novel nonsense mutation in α-galactosidase A that causes Fabry disease in a Chinese family.Renal failure · 2024Article
- 2024 Update of the TSOC Expert Consensus of Fabry Disease.Acta Cardiologica Sinica · 2024Article
- Article
- Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.Internal medicine (Tokyo, Japan) · 2024Article
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.Cells · 2024Article
- Article
- Cold-evoked potentials in Fabry disease and polyneuropathy.Frontiers in pain research (Lausanne, Switzerland) · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
21 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a rare X-linked hereditary disease caused by mutations in the AGAL gene encoding the lysosomal enzyme alpha-galactosidase A. Enzyme replacement therapy (ERT) is the current cornerstone of Fabry disease management. Involvement of kidney, heart and the central nervous system shortens life span, and fibrosis of these organs is a hallmark of the disease. Fibrosis was initially thought to result from tissue ischemia secondary to endothelial accumulation of glycosphingolipids in the microvasculature. However, despite ready clearance of endothelial deposits, ERT is less effective in patients who have already developed fibrosis. Several potential explanations of this clinical observation may impact on the future management of Fabry disease. Alternative molecular pathways linking glycosphingolipids and fibrosis may be operative; tissue injury may recruit secondary molecular mediators of fibrosis that are unresponsive to ERT, or fibrosis may represent irreversible tissue injury that limits the therapeutic response to ERT. We provide an overview of Fabry disease, with a focus on the assessment of fibrosis, the clinical consequences of fibrosis, and recent advances in understanding the cellular and molecular mechanisms of fibrosis that may suggest novel therapeutic approaches to Fabry disease.
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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.