Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics - Favalli, Valentina; Disabella, Eliana; Molinaro, Mariadelfina; Tagliani, Marilena; Scarabotto, Anna; Serio, Alessandra; Grasso, Maurizia; Narula, Nupoor; Giorgianni, Carmela; Caspani, Clelia; Concardi, Monica; Agozzino, Manuela; et al. (Journal of the American College of Cardiology, 2016)
Keywords: Adolescent; Adult; alpha-Galactosidase; alpha-Galactosidase - genetics; biochemical; Biopsy; Cardiology; Cardiomyopathy; Cardiovascular; Celiac disease; Child; Deoxyribonucleic acid; Dermatology; Disease; DNA; Enzymes; Fabry Disease; Fabry Disease - diagnosis; Fabry Disease - genetics; family screening; Female; Gastroenterology; Genes; Genetic counseling; Genetic Testing; Genotype & phenotype; GLA; GLA; MOGE(S) classification; biochemical; family screening; multidisciplinary evaluation; α-Gal; Hospitals; Humans; Internal medicine; Male; Medicine; Middle Aged; MOGE(S) classification; multidisciplinary evaluation; Mutation; Nephrology; NMR; Nuclear magnetic resonance; Pain; Pediatrics; Plasma; Prospective Studies; Settore MED/03 - GENETICA MEDICA; Settore MED/26 - NEUROLOGIA; Stroke; Studies; α-Gal; family screening; biochemical; MOGE(S) classification; LV; α-Gal; PBMC; TIA; multidisciplinary evaluation; Gal; HCM; WML; Gb3; GLA; AFD; LVH; Anderson-Fabry disease; globotriaosylceramide; left ventricle; peripheral blood mononuclear cell(s); transient ischemic attack; galactosidase A (enzyme); left ventricular hypertrophy; hypertrophic cardiomyopathy; white matter lesions