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A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3)

Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A). As a result, the main glycosphingolipid substrates, globotriaosylceramide (Gb3) and globotriaosyls...

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Detalles Bibliográficos
Autores principales: Perrone, Alessandro, Mohamed, Susan, Donadio, Vincenzo, Liguori, Rocco, Contin, Manuela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8658868/
https://www.ncbi.nlm.nih.gov/pubmed/34885938
http://dx.doi.org/10.3390/molecules26237358

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