TY  - JOUR 
AU  - Ferreira, Susana
AU  - Ortiz, Alberto
AU  - Germain, Dominique P.
AU  - Viana-Baptista, Miguel
AU  - Caldeira Gomes, António
AU  - Camprecios, Marta
AU  - Fenollar-Cortés, María
AU  - Gallegos-Villalobos, Ángel
AU  - Garcia, Diego
AU  - García-Robles, José Antonio
AU  - Egido, Jesús
AU  - Gutiérrez-Rivas, Eduardo
AU  - Herrero, José Antonio
AU  - Mas, Sebastián
AU  - Oancea, Raluca
AU  - Péres, Paloma
AU  - Salazar-Martín, Luis Manuel
AU  - Solera-Garcia, Jesús
AU  - Alves, Helena
AU  - Garman, Scott C.
AU  - Oliveira, João Paulo
PY  - 2014
SN  - 1096-7192
UR  - http://hdl.handle.net/20.500.12020/676
AB  - Lysosomal α-galactosidase A (α-Gal) is the enzyme deficient in Fabry disease (FD), an X-linked glycosphingolipidosis caused by pathogenic mutations affecting the GLA gene. The early-onset, multi-systemic FD classical phenotype is associated with...
LA  - en
PB  - Society for Inherited Metabolic Disorders
TI  - The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies
T2  - Molecular Genetics and Metabolism
M2  - 248
KW  - Fabry disease
KW  - α-galactosidase A
KW  - GLA gene
KW  - variant p.(Arg118Cys)
VL  - 114
ER  -