Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

doi:10.1016/j.jacc.2016.05.090

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Article

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

Journal of the American College of Cardiology - 6 Sept 2016

Favalli Valentina, Disabella Eliana, Molinaro Mariadelfina, Tagliani Marilena, Scarabotto Anna, Serio Alessandra, Grasso Maurizia, Narula Nupoor, Giorgianni Carmela, Caspani Clelia, Concardi Monica, Agozzino Manuela, Giordano Calogero, Smirnova Alexandra, Kodama Takahide, Giuliani Lorenzo, Antoniazzi Elena, Borroni Riccardo G, Vassallo Camilla, Mangione Filippo, Scelsi Laura, Ghio Stefano, Pellegrini Carlo, Zedde Marialuisa, Fancellu Laura, Sechi GianPietro, Ganau Antonello, Piga Stefania, Colucci Annarita, Concolino Daniela, Di Mascio Maria Teresa, Toni Danilo, Diomedi Marina, Rapezzi Claudio, Biagini Elena, Marini Massimiliano, Rasura Maurizia, Melis Maurizio, Nucera Antonia, Guidetti Donata, Mancuso Michelangelo, Scoditti Umberto, Cassini Pamela, Narula Jagat, Tavazzi Luigi, Arbustini Eloisa

Abstract excerpt

BACKGROUND: 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...

Topics

Adolescent
Adult
Child
Fabry Disease
Female
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hospitals

Humans

Male

Medicine

Middle Aged

Mutation

Prospective Studies

alpha-Galactosidase

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Open in PubMed

Identifiers

PMID: 27585509
DOI: 10.1016/j.jacc.2016.05.090

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