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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...
Autores principales: | Perrone, Alessandro, Mohamed, Susan, Donadio, Vincenzo, Liguori, Rocco, Contin, Manuela |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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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