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%.
Favalli, V., Disabella, E., Molinaro, M., Tagliani, M., Scarabotto, A., Serio, A., et al. (2016). Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 68(10), 1037-1050 [10.1016/j.jacc.2016.05.090].
Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics
DIOMEDI, MARINA;
2016-09-01
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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