TY  - JOUR
AU  - Del Pino, Maria
AU  - Andres, Amado
AU  - Bernabeu, Ana Avila
AU  - de Juan-Rivera, Joaquin
AU  - Fernandez, Elvira
AU  - de Dios Garcia Diaz, Juan
AU  - Hernandez, Domingo
AU  - Luño, Jose
AU  - Fernandez, Isabel Martinez
AU  - Paniagua, Jose
AU  - Posada de la Paz, Manuel
AU  - Rodriguez-Perez, Jose Carlos
AU  - Santamaria, Rafael
AU  - Torra, Roser
AU  - Ambros, Joan Torras
AU  - Vidau, Pedro
AU  - Torregrosa, Josep-Vicent
PY  - 2018
DO  - 10.1159/000488121
UR  - http://hdl.handle.net/10668/12256
T2  - Kidney & blood pressure research
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  - en
PB  - S. Karger
KW  - Enzyme replacement therapy
KW  - Fabry disease
KW  - Inherited disorder
KW  - Nephropathy
KW  - Proteinuria
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  - research article
VL  - 43
ER  -