TY  - GEN
AU  - San Román-Monserrat,Irene
AU  - Moreno-Flores,Victoria
AU  - López-Cuenca,David
AU  - Rodríguez-González-Herrero,Elena
AU  - Guillén-Navarro,Encarna
AU  - Rodríguez-González-Herrero,Beatriz
AU  - Alegría-Fernández,Marisol
AU  - Poza-Cisneros,Gabriela
AU  - Piñero-Fernández,Juan A
AU  - Sornichero-Martínez,Javier
AU  - Gimeno-Blanes,Juan R
TI  - Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype
SN  - 1578-8989
PY  - 2015///0102
KW  - Adult
KW  - Age of Onset
KW  - Amino Acid Substitution
KW  - Arrhythmias, Cardiac
KW  - etiology
KW  - Brain
KW  - pathology
KW  - Enzyme Replacement Therapy
KW  - Eye Diseases
KW  - Fabry Disease
KW  - complications
KW  - Female
KW  - Genotype
KW  - Heart Arrest
KW  - Heart Transplantation
KW  - Humans
KW  - Hypertrophy, Left Ventricular
KW  - Kidney
KW  - Kidney Diseases, Cystic
KW  - Kidney Failure, Chronic
KW  - Kidney Transplantation
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Myocardium
KW  - Pedigree
KW  - Point Mutation
KW  - Spain
KW  - epidemiology
KW  - alpha-Galactosidase
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.medcli.2014.01.032
ER  -