ReviewBiomolecules2022
An Overview of Molecular Mechanisms in Fabry Disease.
Review in Biomolecules, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 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
22 citing papers in PubMed, 34 citations in OpenAlex.
- Review
- Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report.Clinical case reports · 2026Article
- Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening.Public health genomics · 2026Article
- Novel GLA variant (c.752A>C; p.Glu251Ala) identified in a patient with Fabry cardiomyopathy and familial segregation.Frontiers in molecular biosciences · 2026Article
- Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024.Public health genomics · 2026Article
- Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.Orphanet journal of rare diseases · 2025Article
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Characterizing pain in patients with Fabry disease: findings from a web-based cross-sectional survey in the US.Orphanet journal of rare diseases · 2025Article
- Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.Genome medicine · 2025Article
- Article
- Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.Cells · 2025Article
- Gut-Heart Axis: Microbiome Involvement in Restrictive Cardiomyopathies.Biomedicines · 2025Review
- The Identification of a Novel Pathogenic Variant of theInternational journal of molecular sciences · 2025Article
- Article
- Preclinical efficacy and safety of adeno-associated virus 5 alpha-galactosidase: A gene therapy for Fabry disease.Molecular therapy. Methods & clinical development · 2024Article
- Overcoming Resistance in Anderson-Fabry Disease: Current Therapeutic Challenges and Future Perspectives.Journal of clinical medicine · 2024Article
- Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.Journal of clinical medicine · 2024Article
- Review
- Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.Therapeutics and clinical risk management · 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
13 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) (OMIM #301500) is a rare genetic lysosomal storage disorder (LSD). LSDs are characterized by inappropriate lipid accumulation in lysosomes due to specific enzyme deficiencies. In FD, the defective enzyme is α-galactosidase A (α-Gal A), which is due to a mutation in the
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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.