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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...
Autores principales: | Malavera, Alejandra, Cadilhac, Dominique A., Thijs, Vincent, Lim, Joyce Y., Grabsch, Brenda, Breen, Sibilah, Jan, Stephen, Anderson, Craig S. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7721671/ https://www.ncbi.nlm.nih.gov/pubmed/33324335 http://dx.doi.org/10.3389/fneur.2020.596420 |
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