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Updated: Jun 8, 2026

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
Abstract:
The lysosomal storage diseases (LSD) are a group of entities with a meaningful organic affectation profile and important morbidity-mortality rates, which considerably affect the patients' quality of life. At present, new LSD are regularly described because their physiopathological mechanism is recognized and they are susceptible to be treated with enzyme replacement therapy. During 2009, a cross-disciplinary group of Mexican experts on the Gaucher's disease gathered to develop diagnosis and treatment guidelines. This document presents the approach and recommendations of Mexican experts, according to the demography, resources, and epidemiologic reality in Mexico, a country with over 100 million inhabitants.
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