Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR)

Screening for Fabry Disease in Young Strokes in the Australian Stroke Clinical Registry (AuSCR)

Introduction: Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by a deficiency or absence of alpha-galactosidase A (α-GAL A) enzyme, where stroke can be a serious complication. The aim of this study is to determine the feasibility of centralized screening for FD, among youn...

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Bibliographic Details
Main Authors: Alejandra Malavera, Dominique A. Cadilhac, Vincent Thijs, Joyce Y. Lim, Brenda Grabsch, Sibilah Breen, Stephen Jan, Craig S. Anderson
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-11-01
Series:Frontiers in Neurology
Subjects:
fabry disease
α-galactosidase A
screening
blood spot test
GLA gene
young stroke
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2020.596420/full

Internet

https://www.frontiersin.org/articles/10.3389/fneur.2020.596420/full

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