ReviewJournal of general and family medicine2017
Fabry disease and its cardiac involvement.
Review in Journal of general and family medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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
17 citing papers in PubMed, 24 citations in OpenAlex.
- Early mitophagy defects and impaired mitochondrial energy metabolism drive target organ damage progression: lessons from the Fabry heart.bioRxiv : the preprint server for biology · 2026Article
- Looking for Fabry, Finding More: LVH Screening Yields Unexpected Gaucher Diagnosis.Medical sciences (Basel, Switzerland) · 2025Article
- Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study.Orphanet journal of rare diseases · 2023Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- Discordant renal progression of Fabry disease in male monozygotic twins: a case report.Frontiers in genetics · 2023Article
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- CARS Imaging Advances Early Diagnosis of Cardiac Manifestation of Fabry Disease.International journal of molecular sciences · 2022Article
- Current and experimental therapeutics for Fabry disease.Clinical genetics · 2021Review
- Fabry Disease on Peritoneal Dialysis with Cardiac Involvement.Internal medicine (Tokyo, Japan) · 2021Article
- A review of the application of nanoparticles in the diagnosis and treatment of chronic kidney disease.Bioactive materials · 2020Review
- Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review.Rheumatology international · 2020Review
- Serial Analysis of Cardiopulmonary Fitness and Echocardiography in Patients with Fabry Disease Undergoing Enzyme Replacement Therapy.Journal of rehabilitation medicine. Clinical communications · 2020Article
- Improved Efficacy in a Fabry Disease Model Using a Systemic mRNA Liver Depot System as Compared to Enzyme Replacement Therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates.American journal of human genetics · 2019Article
- Histopathology in HCM.Global cardiology science & practice · 2018Review
- Anderson-Fabry disease in heart failure.Biophysical reviews · 2018Review
- Fabry disease and its cardiac involvement.Journal of general and family medicine · 2017Review
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
Fabry disease (FD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A activity. This enzymatic defect leads to the progressive accumulation of glycosphingolipids throughout the body and causes multisystemic problems including neurological, ocular, skin, renal, and cardiac manifestations in classical type of FD. The majority of patients with this disease have cardiac involvement that is mainly manifested as left ventricular hypertrophy (LVH). A cardiac variant of FD with late-onset isolated cardiac manifestation has also been recognized. Recent studies have revealed that the prevalence of FD in patients with unexplained LVH is about 1%. Cardiac involvement of FD is associated with significant morbidity and early death due to heart failure or ventricular arrhythmias. As disease-specific enzyme replacement therapy is now available for FD, correct diagnosis is important.
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What OpenQuestion holds
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.