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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

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