ArticleJournal of the American Society of Nephrology : JASN2017
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
Article in Journal of the American Society of Nephrology : JASN, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 238 papers, 3 of them syntheses 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
238 citing papers in PubMed, 3 syntheses or guidelines pooled it, 414 citations in OpenAlex.
- Cutaneous manifestations of Fabry disease: A systematic review.The Journal of dermatology · 2025Pooled it
- A systematic literature review to evaluate the cardiac and cerebrovascular outcomes of patients with Fabry disease treated with agalsidase Beta.Frontiers in cardiovascular medicine · 2024Pooled it
- Fabry disease and sleep disorders: a systematic review.Frontiers in neurology · 2023Pooled it
- Long-term efficacy of migalastat in females with Fabry disease.Journal of medical genetics · 2025Trial
- A phase 4, open-label, multicenter study of the safety and efficacy of agalsidase beta in Chinese patients with Fabry disease.Orphanet journal of rare diseases · 2025Trial
- Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study.Journal of medical genetics · 2024Trial
- Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.Molecular genetics and metabolism · 2023Trial
- Detection of single nucleotide and copy number variants in the Fabry disease-associated GLA gene using nanopore sequencing.Scientific reports · 2021Trial
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Cardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease.Medeniyet medical journal · 2026Article
- Occurrence of Infusion Associated Reactions and Antidrug Antibodies in Enzyme Replacement Therapy for Fabry Disease and the Effect of Preventive Measures.Journal of inherited metabolic disease · 2026Article
- Fabry Disease: An Updated Perspective and Review of Treatment and Therapies.Advances in therapy · 2026Review
- 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
- Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.International journal of molecular sciences · 2026Article
- Multimodal phenotypic clustering predicts cardiac outcomes in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Prevalence and sociodemographic, clinical, and genetic characteristics of Fabry disease in north-central Chile, 2013-2023.Molecular genetics and metabolism reports · 2026Article
- Integrated Glyco-Analytical Strategy for Comprehensive Characterization of a Complex Therapeutic Glycoprotein: Fabrazyme.International journal of molecular sciences · 2026Article
- Is Fabry disease more prevalent than we think? Understanding the critical role of family screening can make all the difference.International urology and nephrology · 2026Article
- Exploring a plasma proteomic biosignature associated with cardiac involvement in Fabry disease.Journal of molecular medicine (Berlin, Germany) · 2026Article
- Intraepidermal nerve fiber density as a predictor of cardiac events in Fabry disease.European heart journal open · 2026Article
178 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease leads to renal, cardiac, and cerebrovascular manifestations. Phenotypic differences between classically and nonclassically affected patients are evident, but there are few data on the natural course of classical and nonclassical disease in men and women. To describe the natural course of Fabry disease stratified by sex and phenotype, we retrospectively assessed event-free survival from birth to the first clinical visit (before enzyme replacement therapy) in 499 adult patients (mean age 43 years old; 41% men; 57% with the classical phenotype) from three international centers of excellence. We classified patients by phenotype on the basis of characteristic symptoms and enzyme activity. Men and women with classical Fabry disease had higher event rate than did those with nonclassical disease (hazard ratio for men, 5.63, 95% confidence interval, 3.17 to 10.00;
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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.