Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease∗

Journal of the American College of Cardiology

Volumn 68, Issue 10, 2016, Pages 1051-1053

  Marian, Ali J ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

Author keywords

alpha galactosidase A; causality; genetic testing; hypertrophic cardiomyopathy; loss of function

Indexed keywords

ALPHA GALACTOSIDASE; DNA;

BIOCHEMISTRY; CLINICAL FEATURE; CORNEA DISEASE; CORRELATION ANALYSIS; DIAGNOSTIC ACCURACY; DNA SEQUENCE; EARLY DIAGNOSIS; EDITORIAL; ENZYME ACTIVITY; FABRY DISEASE; GENE; GENETIC ANALYSIS; GENETIC SCREENING; GENETIC VARIABILITY; GLA GENE; HEART OUTFLOW TRACT OBSTRUCTION; HEMANGIOKERATOMA; HISTOPATHOLOGY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; KIDNEY FAILURE; LOSS OF FUNCTION MUTATION; LYSOSOME STORAGE DISEASE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RISK ASSESSMENT; GENETICS;

ALPHA-GALACTOSIDASE; CARDIOMYOPATHY, HYPERTROPHIC; FABRY DISEASE; GENETIC TESTING; HUMANS;

EID: 84994528814     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2016.06.026     Document Type: Editorial

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