ArticleMolecular genetics and metabolism reports2020
Natural history of the late-onset phenotype of Fabry disease due to the p.F113L mutation.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- Progressive conduction system disease preceding hypertrophy in IVS4+919G>A Fabry variant: a population-based electrocardiographic study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
- MiR-19a-3p: a potential biomarker for predicting cardiac risk in anderson-fabry disease.Journal of cardiothoracic surgery · 2026Article
- Cardiac manifestations of Fabry disease.NPJ cardiovascular health · 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
- Article
- Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.JIMD reports · 2024Article
- Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.Genes · 2023Article
- Late-onset fabry disease due to the p.Phe113Leu variant: the first italian cluster of five families.Metabolic brain disease · 2023Article
- Assessment of Retinal Vessel Tortuosity Index in Patients with Fabry Disease Using Optical Coherence Tomography Angiography (OCTA).Diagnostics (Basel, Switzerland) · 2023Article
- Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies.Frontiers in cardiovascular medicine · 2023Review
- Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking.Frontiers in cardiovascular medicine · 2023Article
- Sex-Related Differences in Genetic Cardiomyopathies.Journal of the American Heart Association · 2022Review
- Elevated Ambulatory Blood Pressure Measurements are Associated with a Progressive Form of Fabry Disease.High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension · 2021Article
- Review
- Fabry Disease and the Heart: A Comprehensive Review.International journal of molecular sciences · 2021Review
- The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field.International journal of molecular sciences · 2021Review
- Fabry Disease Therapy: State-of-the-Art and Current Challenges.International journal of molecular sciences · 2020Review
- Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation.The American journal of case reports · 2020Article
- Screening for Fabry Disease in Kidney Transplant Recipients: Experience of a Multidisciplinary Team.Biomedicines · 2020Article
Corrections and comments
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Authors and funding
13 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe common
methods203 consecutive adult Fabry patients with p.F113L mutation (79 males; mean age 46 ± 18 years), from this region, were submitted at baseline to a predefined diagnostic protocol. The occurrence of FD manifestations was analyzed in each decade of age in both genders.
resultsIn males, left ventricular hypertrophy (40.2%) and late gadolinium enhancement (21.4%) arose over 30 years; heart failure (HF) (21.9%), ventricular tachycardia (8.9%) and conduction disorders over 40 years; and bifascicular (13.1%) and complete atrioventricular blocks (5.9%) beyond 50 years of age. Cardiac manifestations occurred more commonly and 1-2 decades earlier in males; their frequency increased with age. Septum and posterior wall thickness, LV mass, QRS interval duration and pro-BNP levels increased with age in both genders. Mean survival free from HF (64 ± 1 vs. 76 ± 2 years) and pacemaker (71 ± 2 vs. 86 ± 1 years) was higher in females (
conclusionThis study improves the knowledge on natural history of late-onset variants of FD, carrying major impact on clinical decisions and guidelines.
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