A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse

• Main Authors: Seok-Ho Shin (Author), Min-Ho Park (Author), Jin-Ju Byeon (Author), Byeong ill Lee (Author), Yuri Park (Author), Ah-ra Ko (Author), Mi-ran Seong (Author), Soyeon Lee (Author), Mi Ra Kim (Author), Jinwook Seo (Author), Myung Eun Jung (Author), Dong-Kyu Jin (Author), Young G. Shin (Author)
• Format: Book
• Published: MDPI AG, 2018-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Fabry disease is a rare lysosomal storage disorder resulting from the lack of α-Gal A gene activity. Globotriaosylceramide (GB3, ceramide trihexoside) is a novel endogenous biomarker which predicts the incidence of Fabry disease. At the early stage efficacy/biomarker study, a rapid method...