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Updated: May 1, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

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Características clínicas y avances recientes en el tratamiento de la enfermedad de Fabry

R O Brady1, R Schiffmann

  • 1Developmental Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 10 Center Dr, MSC 1260, Bethesda, MD 20892-1260, USA.

JAMA
|December 6, 2000
PubMed
Resumen

La enfermedad de Fabry, un trastorno de almacenamiento lisosomal, causa daños graves en los órganos debido a la deficiencia de alfa-galactosidasa A. La terapia de reemplazo enzimático con alfa-galactosidasa A intravenosa es segura y efectiva para los pacientes.

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