A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: A case report

BMC Cardiovascular Disorders

Volumn 12, Issue , 2012, Pages

  Pisani, Antonio ^a   Imbriaco, Massimo ^a   Zizzo, Carmela ^b   Albeggiani, Giuseppe ^b   Colomba, Paolo ^b   Alessandro, Riccardo ^c   Iemolo, Francesco ^b   Duro, Giovanni ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

Author keywords

galactosidase A; Fabry disease; GLA; Globotriaosylceramide; High resolution melting

Indexed keywords

AGALSIDASE ALFA; ALPHA GALACTOSIDASE;

ADULT; ANGINA PECTORIS; ARM DISEASE; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CHRONIC KIDNEY DISEASE; DISEASE SEVERITY; DNA SEQUENCE; DRUG EFFICACY; ENZYME REPLACEMENT; FABRY DISEASE; FEMALE; GENE; GENE MUTATION; GLA GENE; HEART INFARCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART PALPITATION; HEAT INTOLERANCE; HUMAN; KIDNEY BIOPSY; MICROSCOPY; MYOCARDIAL PERFUSION IMAGING; PRIORITY JOURNAL; PROMOTER REGION; RELAXATION TIME; TRANSIENT ISCHEMIC ATTACK; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADULT; ALPHA-GALACTOSIDASE; BIOPSY; CARDIOVASCULAR DISEASES; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FABRY DISEASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INTRONS; KIDNEY DISEASES; MAGNETIC RESONANCE IMAGING; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROMOTER REGIONS, GENETIC;

EID: 84861922459     PISSN: None     EISSN: 14712261     Source Type: Journal    
DOI: 10.1186/1471-2261-12-39     Document Type: Article

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