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

Journal of the American College of Cardiology

Volumn 68, Issue 10, 2016, Pages 1037-1050

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

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^b MAYO CLINIC   (United States)

^c TORANOMON HOSPITAL   (Japan)

^d S MARIA NUOVA HOSPITAL   (Italy)

^e UNIVERSITY OF SASSARI   (Italy)

^f Azienda Ospedaliera di Rilievo Nazionale San Giuseppe Moscati   (Italy)

^g UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

^j UNIVERSITY OF BOLOGNA   (Italy)

^k SANTA CHIARA HOSPITAL   (Italy)

^l SAPIENZA UNIVERSITY OF ROME   (Italy)

^m BROTZU HOSPITAL   (Italy)

ⁿ UNIVERSITY OF WESTERN ONTARIO   (Canada)

^o GUGLIELMO DA SALICETO HOSPITAL   (Italy)

^p UNIVERSITY OF PISA   (Italy)

^q UNIVERSITY OF PARMA   (Italy)

^r MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^s MARIA CECILIA HOSPITAL   (Italy)

more..

Author keywords

biochemical; family screening; GLA; MOGE(S) classification; multidisciplinary evaluation; Gal

Indexed keywords

ALPHA GALACTOSIDASE; GLOBOTRIAOSYLCERAMIDE;

ADULT; ARTICLE; BIOCHEMISTRY; BRAIN DISEASE; CLINICAL EVALUATION; CLINICAL EXAMINATION; DERMATOLOGY; DIAGNOSTIC VALUE; DISEASE TRANSMISSION; EAR DISEASE; ENZYME ACTIVITY; EYE DISEASE; FABRY DISEASE; FAMILY STUDY; FEMALE; GASTROENTEROLOGY; GASTROINTESTINAL DISEASE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; GLA GENE; HEALTH CARE FACILITY; HEART DISEASE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INTERNAL MEDICINE; KIDNEY DISEASE; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; MEDICAL GENETICS; OPHTHALMOLOGY; PATIENT REFERRAL; PEDIATRICS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; REFUSAL TO PARTICIPATE; SKIN DISEASE; TISSUE SPECIFICITY; ADOLESCENT; CHILD; CLINICAL TRIAL; GENETICS; HOSPITAL; MEDICINE; MIDDLE AGED; MULTICENTER STUDY; MUTATION;

ADOLESCENT; ADULT; ALPHA-GALACTOSIDASE; CHILD; FABRY DISEASE; FEMALE; GENETIC TESTING; HOSPITALS; HUMANS; MALE; MEDICINE; MIDDLE AGED; MUTATION; PROSPECTIVE STUDIES;

EID: 84994663269     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2016.05.090     Document Type: Article

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