Original paper
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Abstract
Background
Fabry disease (FD), a lysosomal storage disorder caused by α-galactosidase A (GLA) gene variants, has a heterogeneous phenotype. GLA variants can lead to classical FD, an attenuated non-classical phenotype, or no disease at all. This study investigates the value of plasma globotriaosylsphingosine (lysoGb3) to distinguish between these groups. This is of particular importance in the diagnosis of individuals with...Paper Details
Title
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease
Published Date
Jan 16, 2015
Journal
Volume
52
Issue
4
Pages
262 - 268
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Notes
History