ArticleJournal of genetic counseling2008
Diagnosis of Fabry disease via analysis of family history.
Article in Journal of genetic counseling, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis 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.
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.
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 94 citations in OpenAlex.
- Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2013Guideline
- Real world outcomes of Fabry disease in Italian excellence centers: the ground study.Orphanet journal of rare diseases · 2026Observational
- Use of nonsteroidal mineralocorticoid receptor antagonist in chronic kidney disease: A case report of a patient with Fabry disease in his mid-20s.The Journal of international medical research · 2026Article
- Clinical Practice of Multidisciplinary Team-Guided Comprehensive Management for Pediatric Patients with Fabry Disease: A Single-Center Case Series.Journal of multidisciplinary healthcare · 2026Article
- Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic delay.Frontiers in cardiovascular medicine · 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
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Newborn Screening in Fabry Disease.International journal of molecular sciences · 2025Review
- Optimizing α-galactosidase A enzyme cutoff for Fabry disease screening in chronic kidney disease patients: a single-center reassessment of diagnostic yield and cost-effectiveness.Renal failure · 2025Article
- Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.Renal failure · 2025Article
- Risk factors, stroke rates and aspirin prescribing trends in the Canadian Fabry disease initiative cohort.Orphanet journal of rare diseases · 2025Article
- Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.Clinical science (London, England : 1979) · 2025Article
- Underdiagnosis of Fabry disease in minority ethnic groups.Molecular genetics and metabolism reports · 2025Article
- Cryo-ablation management of atrial fibrillation in Fabry disease without agalsidase alpha: a case report.Frontiers in cardiovascular medicine · 2025Article
- FDrisk: development of a validated risk assessment tool for Fabry disease utilizing electronic health record data.Journal of rare diseases (Berlin, Germany) · 2024Article
- Newborn Screening for Fabry Disease: Current Status of Knowledge.International journal of neonatal screening · 2023Review
- Pharmacometric model of agalsidase-migalastat interaction in human: a novel mechanistic model of drug-drug interaction between a therapeutic protein and a small molecule.Journal of pharmacokinetics and pharmacodynamics · 2023Article
- Fabry Disease: Current and Novel Therapeutic Strategies. A Narrative Review.Current neuropharmacology · 2023Review
- Fabry disease - what a gastroenterologist should know.Przeglad gastroenterologiczny · 2023Review
- Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Fabry disease is an X-linked lysosomal storage condition caused by a deficiency of alpha-galactosidase A. In order to determine the average number of family members who are diagnosed with Fabry disease following the diagnosis of a proband, four lysosomal storage disease centers across the United States reviewed the completed pedigrees of their Fabry disease patients. In addition, data from three Fabry disease families from other centers were submitted by patients directly. The pedigree review found 74 probands (54 males and 20 females) who had 357 diagnosed family members, of which 223 were female (60.5%) and 146 were male (39.5%). Analysis found that, on average, there were five family members diagnosed with Fabry disease for every proband. Now that enzyme replacement therapy (ERT) is available for the treatment of Fabry disease, this finding emphasizes the need for all health care professionals to ensure a detailed pedigree has been constructed for each patient affected by Fabry disease and to encourage testing and evaluation of all at-risk family members.
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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.