Article
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
Clinical genetics - 1 Aug 2015
Smid B E, Hollak C E M, Poorthuis B J H M, van den Bergh Weerman M A, Florquin S, Kok W E M, Lekanne Deprez R H, Timmermans J, Linthorst G E
Abstract excerpt
Fabry disease' (FD) phenotype is heterogeneous: alpha-galactosidase A gene mutations (GLA) can lead to classical or non-classical FD, or no FD. The aim of this study is to describe pitfalls in diagnosing non-classical FD and assess the diagnostic value of plasma globotriaosylsphingosine. This is a case series study. Family 1 (p.A143T) presented with hypertrophic cardiomyopathy (HCM), absent classical FD signs,...
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