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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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Terapia de reemplazo enzimático en la enfermedad de Fabry: un ensayo controlado aleatorizado

R Schiffmann1, J B Kopp, H A Austin

  • 1Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, Bldg 10, Room 3D03, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892-1260, USA. rs4e@nih.gov

JAMA
|June 21, 2001
PubMed
Resumen

La terapia de reemplazo enzimático con alfa-galactosidasa A (alfa-gal A) redujo significativamente el dolor neuropático y mejoró la función renal en pacientes con enfermedad de Fabry. Este tratamiento intravenoso ofrece una opción segura y efectiva para el manejo de este raro trastorno metabólico.

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