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Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS

Limited or absent activity of the enzyme α-galactosidase A (α-Gal A), due to mutation in the related gene on the X chromosome, leads to the development of a rare hereditary and genetic disease known as Fabry disease (FD). This pathology involves a progressive accumulation in various organs of the su...

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Principais autores: Gennaro Battaglia, Gabriella Pinto, Carolina Fontanarosa, Michele Spinelli, Anna Illiano, Stefania Serpico, Lorenzo Chiariotti, Roberta Risoluti, Stefano Materazzi, Angela Amoresano
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2024-08-01
Colecção:Separations
Assuntos:
Fabry disease
glycosphingolipids
ceramides
LC-MS/MS analysis
targeted approach
analytical tool
Acesso em linha:https://www.mdpi.com/2297-8739/11/8/239
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