TY  - GEN
AU  - Del Pino, María
AU  - Andrés, Amado
AU  - Ávila Bernabéu, Ana
AU  - de Juan-Rivera, Joaquín
AU  - Fernández, Elvira
AU  - de Dios García Díaz, Juan
AU  - Hernández, Domingo
AU  - Luño, José
AU  - Martínez Fernández, Isabel
AU  - Paniagua, José
AU  - Posada De la Paz, Manuel
AU  - Rodríguez-Pérez, José Carlos
AU  - Santamaría, Rafael
AU  - Torra, Roser
AU  - Torras Ambros, Joan
AU  - Vidau, Pedro
AU  - Torregrosa, Josep-Vicent
PY  - 2018
DO  - 10.1159/000488121
SN  - 1420-4096
UR  - http://hdl.handle.net/20.500.12105/11227
AB  - 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...
LA  - eng
PB  - Karger Publishers
KW  - 1-Deoxynojirimycin
KW  - Enzyme Replacement Therapy
KW  - Fabry Disease
KW  - Female
KW  - Galactosidases
KW  - Humans
KW  - Kidney Diseases
KW  - Male
KW  - Trihexosylceramides
TI  - Fabry Nephropathy: An Evidence-Based Narrative Review
TY  - review article
ER  -