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

[...]genetic, biochemical, and histological testing (whenever possible) are incorporated into the diagnostic work-up and clinical management of patients with AFD. Biochemical assays, however, have their own limits (11); factors such as pH, temperature, endogenous substances including free hemoglobin...

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Veröffentlicht in:	Journal of the American College of Cardiology 2016-09, Vol.68 (10), p.1051-1053
1. Verfasser:	Marian, Ali J.
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Galactosidase alpha-galactosidase A Biomarkers Cardiology Cardiomyopathy Cardiomyopathy, Hypertrophic causality Chromosomes Deoxyribonucleic acid DNA Enzymes Fabry Disease - genetics Genetic disorders Genetic Testing Humans hypertrophic cardiomyopathy loss of function Mutation
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description	[...]genetic, biochemical, and histological testing (whenever possible) are incorporated into the diagnostic work-up and clinical management of patients with AFD. Biochemical assays, however, have their own limits (11); factors such as pH, temperature, endogenous substances including free hemoglobin, and additional galactosidases (5) can affect the in vitro assay readouts of Î±-Gal activity. [...]pertinent laboratories must establish and report assay performance metrics and consider various factors that might influence the readouts, including biological sample quality.
doi_str_mv	10.1016/j.jacc.2016.06.026
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subjects	alpha-Galactosidase alpha-galactosidase A Biomarkers Cardiology Cardiomyopathy Cardiomyopathy, Hypertrophic causality Chromosomes Deoxyribonucleic acid DNA Enzymes Fabry Disease - genetics Genetic disorders Genetic Testing Humans hypertrophic cardiomyopathy loss of function Mutation
title	Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease
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