ReviewInternational urology and nephrology2020
Fabry disease: where are we now?
Review in International urology and nephrology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 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
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- Targeting strategies with lipid vectors for nucleic acid supplementation therapy in Fabry disease: a systematic review.Drug delivery and translational research · 2024Pooled it
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Clinical outcomes of agalsidase Beta (fabrazyme) in Chinese fabry disease patients with proteinuria: a case series.Frontiers in pediatrics · 2026Article
- An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy.Frontiers in medicine · 2026Article
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Sequential central retinal artery occlusion in two brothers: a fight to prevent blindness.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Endothelial cells as key players in cerebral small vessel disease.Nature reviews. Neuroscience · 2025Review
- Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives.Pharmaceutics · 2025Review
- Cost-effectiveness analysis of enzyme replacement therapy for the treatment of Chinese patients with fabry disease: a Markov model.Frontiers in pharmacology · 2025Article
- Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study.Orphanet journal of rare diseases · 2024Article
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.Turkish journal of ophthalmology · 2024Article
- Review
- Could immune cells be associated with nephropathy in Fabry disease patients?International urology and nephrology · 2023Article
- Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.International journal of molecular sciences · 2023Review
- Clinical features and enzyme replacement therapy in 10 children with Fabry disease.Frontiers in pediatrics · 2023Article
- α-Gal A missense variants associated with Fabry disease can lead to ER stress and induction of the unfolded protein response.Molecular genetics and metabolism reports · 2022Article
- Chronic Kidney Disease: Strategies to Retard Progression.International journal of molecular sciences · 2021Review
- Altered pupillary light responses are associated with the severity of autonomic symptoms in patients with Fabry disease.Scientific reports · 2021Article
- The Interaction of Innate and Adaptive Immunity and Stabilization of Mast Cell Activation in Management of Infusion Related Reactions in Patients with Fabry Disease.International journal of molecular sciences · 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
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a multisystemic X-linked disorder characterized by the accumulation of lysosomal globotriaosylceramide (Gb3) secondary to decreased activity of α-galactosidase in cells. Generally, males are more severely affected due to the X-linked inheritance pattern of the disease. However, females are asymptomatic or have a less severe pattern of disease. Enzyme replacement therapy (ERT) is the cornerstone of the treatment of FD. At present, there are two forms of ERT that can be applied to FD patients. Novel therapeutic approaches including chaperone therapy, substrate reduction therapy, and gene therapy have been introduced in the era of treatment of FD. In this review, we aimed to discuss the prevalence, clinical and genetic features, pathophysiology, diagnosis, and therapeutic options in FD patients with nephropathy.
Indexed as
Identifiers
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.