autores Miguel Albino Silva Fernandes do Gago Nuno Jorge Carvalho de Sousa Azevedo, O Gago MF Gabriel Miltenberger-Miltenyi Gaspar, P. Sousa, Nuno Cunha, D. Aksoy-Aksel, A.
palavras-chave Adult Classical phenotype Codon, Nonsense Echocardiography Fabry Disease Female GLA gene Heterozygote Humans Hypertrophy, Left Ventricular Left ventricular hypertrophy Male Middle Aged Mutation Nonsense Pedigree Phenotype Sex Factors Young Adult alpha-Galactosidase