Enzyme replacement therapy in Fabry Disease: the importance of dose

Fabry disease is a rare X-linked inherited disorder due to deficient or absent lysosomal α-galactosidase A activity, resulting in an excessive glycosphingolipid deposit, mainly globotriaosylceramide (gl3) and mortality due renal, cardiac and neurological cause. Current treatment available is enzyme...

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Bibliographic Details
Main Authors: Juan Manuel Politei, Andrea B. Schenone, Consuelo Durand, Alberto Ortiz
Format: Article
Language:Spanish
Published: Asociación Regional de Diálisis y Trasplantes Renales de Capital Federal y Provincia de Buenos Aires 2017-04-01
Series:Revista de Nefrología, Diálisis y Trasplante
Subjects:
Online Access:http://www.revistarenal.org.ar/index.php/rndt/article/view/45