Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots

Fabry disease (FD) is an X-linked lysosomal storage disorder where impaired α-galactosidase A enzyme activity leads to the intracellular accumulation of undegraded glycosphingolipids, including globotriaosylsphingosine (lyso-Gb(3)) and related analogues. Lyso-Gb(3) and related analogues are useful b...

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Detalles Bibliográficos
Autores principales: Boutin, Michel, Lavoie, Pamela, Beaudon, Margot, Kabala Ntumba, Georges, Bichet, Daniel G., Maranda, Bruno, Auray-Blais, Christiane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966246/
https://www.ncbi.nlm.nih.gov/pubmed/36834643
http://dx.doi.org/10.3390/ijms24043223

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966246/
https://www.ncbi.nlm.nih.gov/pubmed/36834643
http://dx.doi.org/10.3390/ijms24043223

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