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June 12, 2026Open Access

A review on comparing diagnostic methods and current and emerging treatment options for long term management of Fabry disease.

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Authors

HPHirni J Patel, Ms. Dhara Patel, Ms. Aastha Hingorani, Ms. Devi Patel

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Overview

Review compares diagnostic methods and treatments for managing Fabry disease, highlighting new options.

Key Points

  • This review aims to compare diagnostic methods and evaluate current and emerging treatment options for Fabry disease management.
  • Reviewed diagnostic procedures including enzyme activity tests and genetic screening.
  • Discussed current treatments like enzyme replacement therapy and emerging options such as gene therapy.
  • Explored the role of biomarkers in diagnosing Fabry disease.
  • Enzyme replacement therapy is the primary treatment but has variable outcomes for patients.
  • Chaperone therapy shows promise for patients with specific mutations, enhancing enzyme function.
  • Emerging therapies, including gene therapy, could provide long-term benefits and potentially cure the disorder.

Cite This Study

Hirni J Patel, Ms. Dhara Patel, Ms. Aastha Hingorani, Ms. Devi Patel (2026) studied this question.

synapsesocial.com/papers/6a2ba4a18101cf8926f03054https://doi.org/10.5281/zenodo.20628579
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Progress and Challenges in the Treatment of Fabry Disease2025 · 15 citations
  2. 2AN INTEGRATIVE REVIEW ON FABRY DISEASE: FROM ITS MOLECULAR MECHANISM TO MODERN THERAPIES2026
  3. 3Enzyme replacement therapy for Fabry disease: Consensus Report2025
  4. 4Fabry Disease: Molecular Basis, Pathophysiology, Diagnostics and Potential Therapeutic Directions2021 · 132 citations
  5. 5Gastrointestinal involvement in fabry disease2024 · 3 citations