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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Mexican consensus on Gaucher's disease]
1Centro Médico Nacional La Raza, Instituto Mexicano del Seguro Social, Distrito Federal, Mexico. s_franco_ornelas@yahoo.com.mx
Lysosomal storage diseases (LSD) significantly impact patient quality of life. Mexican experts developed tailored diagnosis and treatment guidelines for Gaucher disease, considering national demographics and resources.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Lysosomal storage diseases (LSD) present significant morbidity and mortality, affecting patient quality of life.
- Ongoing research identifies new LSD and their treatment potential with enzyme replacement therapy.
- Gaucher disease is a notable example within the LSD spectrum.
Framework:
- A multidisciplinary group of Mexican experts convened in 2009.
- The objective was to establish evidence-based diagnosis and treatment guidelines.
- Guidelines were specifically designed for Gaucher disease management.
Implementation:
- Recommendations are tailored to Mexico's demographic, resource, and epidemiological context.
- The approach considers the realities of a country with over 100 million inhabitants.
- Expert consensus guides the proposed diagnostic and therapeutic strategies.
Implications:
- Provides a localized framework for managing Gaucher disease in Mexico.
- Aims to improve patient outcomes and quality of life for those affected by LSD.
- Highlights the importance of expert-led, context-specific healthcare guidelines.
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