Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%.
Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics / Favalli, V., Disabella, E., Molinaro, M., Tagliani, M., Scarabotto, A., Serio, A., Grasso, M., Narula, N., Giorgianni, C., Caspani, C., Concardi, M., Agozzino, M., Giordano, C., Smirnova, A., Kodama, T., Giuliani, L., Antoniazzi, E., Borroni, R.G., Vassallo, C., Mangione, F., et al.. - In: JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY. - ISSN 0735-1097. - ELETTRONICO. - 68:10(2016), pp. 1037-1050. [10.1016/j.jacc.2016.05.090]
Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics
DI MASCIO, MARIA TERESA;TONI, Danilo;RASURA, Maurizia;
2016
Abstract
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%.| File | Dimensione | Formato | |
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