Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age

INTRODUCTION: A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A act...

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Detalles Bibliográficos
Autores principales: Hauth, Lothar, Kerstens, Jeroen, Yperzeele, Laetitia, Eyskens, François, Parizel, Paul M., Willekens, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964125/
https://www.ncbi.nlm.nih.gov/pubmed/29867742
http://dx.doi.org/10.3389/fneur.2018.00336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5964125/
https://www.ncbi.nlm.nih.gov/pubmed/29867742
http://dx.doi.org/10.3389/fneur.2018.00336

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