Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards

Expert review in diagnostic, therapeutic and follow-up of Fabry disease in Latin America based on patient care standards

Background: Fabry disease (FD) is an X-linked lysosomal sphingolipidosis. It is caused by pathogenic variants in the GLA gene with a consequent deficiency of the enzyme α-galactosidase A, resulting in the pathological accumulation of glycolipids - mainly globotriosyl ceramide (GL-3, GB3) and its dea...

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Main Authors: Roberto Giugliani, Juan Politei, Ana Martins, Nelson Murillo, Paula Rozenfeld, Mauricio Lopera, Sergio Salgado, Gustavo Quirós, Charles Marques Lourenço, Osvaldo Vieira, Hernán Amartino, Fernando Perretta, Sandra Marques e Silva, Joseph Brooks, Laura Titievsky, Jacobo Villalobos, Cassiano Braga, Harris A. Peñaranda
Format: Article
Language:English
Published: Elsevier 2025-06-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Pharmacological chaperone
Enzyme replacement therapy
Migalastat
Alpha-galactosidase a
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426925000333
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