Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype–phenotype expression

Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype–phenotype expression

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Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We repo...

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Bibliographic Details
Main Authors: Christos Paliouras, Georgios Aperis, Foteini Lamprianou, Giorgos Ntetskas, Konstantinos Roufas, Polichronis Alivanis
Format: Article
Language:Spanish
Published: Elsevier 2015-11-01
Series:Nefrología
Subjects:
Fabry disease
Enzyme replacement therapy
Mutation pN215S
Proteinuria
Online Access:http://www.sciencedirect.com/science/article/pii/S0211699515001332

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http://www.sciencedirect.com/science/article/pii/S0211699515001332

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