ReviewOrphanet journal of rare diseases2022
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective.
Review in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 30 citations in OpenAlex.
- 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
- Clinical manifestations, diagnosis, and management of renal involvement in Fabry disease.Renal failure · 2026Review
- Review
- Screening for Fabry Disease Among Dialysis Patients: A Multicenter Cross-Sectional Study in Türkiye with Cascade Screening of Identified Cases.Medicina (Kaunas, Lithuania) · 2026Article
- Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.Molecular genetics and metabolism reports · 2026Article
- Multidisciplinary approach to the assessment and management of children with Fabry disease: Insights from the Chinese Children Genetic Kidney Disease Database.Intractable & rare diseases research · 2026Article
- Characteristics of motor polyneuropathy in Fabry disease: a case-control study.Scientific reports · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Expert Opinion on the Conceptual, Clinical, and Therapeutic Aspects of Fabry Nephropathy: A Nephrologists' Perspective.Kidney & blood pressure research · 2026Review
- Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.Journal of advanced research · 2026Article
- The Role of Skin Innervation for Assessment of Neurological Involvement in Disorders: A Review.Brain sciences · 2025Review
- A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.Journal of pharmaceutical analysis · 2025Review
- Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.International journal of molecular sciences · 2025Review
- Correlation of enzyme activities and genotype with clinical manifestations in Chinese patients of different sexes with classical and late-onset Fabry disease.Frontiers of medicine · 2025Article
- Investigation of topographic, aberrometric, and endothelial cell features of the cornea in Fabry disease.International ophthalmology · 2025Article
- Article
- Effectiveness and safety of enzyme replacement therapy in the treatment of Fabry disease: a Chinese monocentric real-world study.Orphanet journal of rare diseases · 2024Article
- Patient with Fabry disease undergoing cardiac surgery: a word of caution.Indian journal of thoracic and cardiovascular surgery · 2024Article
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.Turkish journal of ophthalmology · 2024Article
- The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.Anatolian journal of cardiology · 2023Article
Corrections and comments
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Authors and funding
9 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This consensus statement by a panel of Fabry experts aimed to identify areas of consensus on conceptual, clinical and therapeutic aspects of Fabry disease (FD) and to provide guidance to healthcare providers on best practice in the management of pediatric and adult patients with FD. This consensus statement indicated the clinical heterogeneity of FD as well as a large number of pathogenic variants in the GLA gene, emphasizing a need for an individualized approach to patient care. The experts reached consensus on the critical role of a high index of suspicion in symptomatic patients and screening of certain at-risk groups to reveal timely and accurate diagnosis of FD along with an increased awareness of the treating physician about the different kinds of pathogenic variants and their clinical implications. The experts emphasized the crucial role of timely recognition of FD with minimal delay from symptom onset to definite diagnosis in better management of FD patients, given the likelihood of changing the disease's natural history, improving the patients' quality of life and the prognosis after enzyme replacement therapy (ERT) administered through a coordinated, multidisciplinary care approach. In this regard, this consensus document is expected to increase awareness among physicians about unique characteristics of FD to assist clinicians in recognizing FD with a well-established clinical suspicion consistent with pathogenic variants and gender-based heterogeneous clinical manifestations of FD and in translating this information into their clinical practice for best practice in the management of patients with FD.
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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.