Fabry Nephropathy: An Evidence-Based Narrative Review

• Main Authors: María del Pino (Author), Amado Andrés (Author), Ana Ávila Bernabéu (Author), Joaquín de Juan-Rivera (Author), Elvira Fernández (Author), Juan de Dios García Díaz (Author), Domingo Hernández (Author), José Luño (Author), Isabel Martínez Fernández (Author), José Paniagua (Author), Manuel Posada de la Paz (Author), José Carlos Rodríguez-Pérez (Author), Rafael Santamaría (Author), Roser Torra (Author), Joan Torras Ambros (Author), Pedro Vidau (Author), Josep-Vicent Torregrosa (Author)
• Format: Book
• Published: Karger Publishers, 2018-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fabry disease (FD) is a rare, X-linked disorder caused by mutations in the GLA gene encoding the enzyme α-galactosidase A. Complete or partial deficiency in this enzyme leads to intracellular accumulation of globotriaosylceramide (Gb3) and other glycosphingolipids in many cell types throughout the b...