ArticleKidney international reports2023
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Article in Kidney international reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- The population frequency of predicted pathogenic genetic variants in commonly affected CAKUT genes in the general population.Pediatric nephrology (Berlin, Germany) · 2026Article
- Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023.Molecular genetics and metabolism reports · 2026Article
- Typical and atypical ADPKD: predicted pathogenic genetic variants and population frequencies.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2026Article
- Article
- Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.Renal failure · 2025Article
- Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population.Scientific reports · 2025Article
- Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.Investigative ophthalmology & visual science · 2025Article
- Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2025Article
- Developing a more accurate population frequency of Marfan syndrome from predicted pathogenic FBN1 variants in the gnomAD cohorts.Scientific reports · 2025Article
- Screening for Fabry Disease-Related Mutations Among 829 Kidney Transplant Recipients.Journal of clinical medicine · 2024Article
- Prevalence of Fabry Disease in Patients on Dialysis in France.International journal of molecular sciences · 2024Article
- The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.Journal of clinical medicine · 2024Article
- Flow Cytometry-Based Assay to Detect Alpha Galactosidase Enzymatic Activity at the Cellular Level.Cells · 2024Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Fabry disease is an X-linked disorder that results from pathogenic Methods: The Genome Aggregation Database (gnomAD) was examined for predicted pathogenic Results: Predicted pathogenic variants in Discussion: The population frequency of 1 in 3225 for undiagnosed men and women with Fabry disease still represents an underestimate because our pathogenicity criteria were rigorous, the cohort did not include already-diagnosed individuals, and whole exome sequencing does not detect intronic variants and large deletions. This study confirms that Fabry disease is more common than previously recognized and still underdiagnosed especially in women.
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.