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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Published on: December 20, 2017

[Fabry disease--diagnostic guideline].

Tamás Constantin1, Eva Rákóczi, Andrea Ponyi

  • 1Semmelweis Egyetem, Altalános Orvostudományi Kar II. Gyermekgyógyászati Klinika, Budapest, Tûzoltó u, 7-9, 1094.

Orvosi Hetilap
|February 6, 2010
PubMed
Summary

Fabry disease, a rare genetic disorder, requires comprehensive guidelines for diagnosis and treatment. This guideline addresses the progressive nature and varied severity in patients, including females.

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Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Metabolic diseases

Context:

  • Fabry disease is a rare, X-linked lysosomal storage disorder.
  • Characterized by globotriaosylceramide accumulation in tissues.
  • Progressive disease with childhood onset, leading to disability and premature death.

Purpose:

  • To establish a comprehensive guideline for Fabry disease diagnosis and treatment follow-up.
  • To address the need for standardized care due to enzyme replacement therapy availability.
  • To provide a framework for managing a condition with variable clinical presentation.

Summary:

  • A Hungarian multi-disciplinary working group developed the guideline.
  • Reviewed previous clinical studies, published materials, and international treatment guidelines.
  • The guideline focuses on diagnosis and ongoing treatment management for Fabry patients.

Impact:

  • Facilitates timely and accurate diagnosis of Fabry disease.
  • Standardizes treatment protocols, potentially improving patient outcomes.
  • Supports healthcare professionals in managing this complex genetic disorder.