Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). The endothelia...

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Detalles Bibliográficos
Autores principales: Cortés-Saladelafont, Elisenda, Fernández-Martín, Julián, Ortolano, Saida
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049671/
https://www.ncbi.nlm.nih.gov/pubmed/36982318
http://dx.doi.org/10.3390/ijms24065246

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10049671/
https://www.ncbi.nlm.nih.gov/pubmed/36982318
http://dx.doi.org/10.3390/ijms24065246

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