Establishment of a flow cytometry screening method for patients with glucose transporter 1 deficiency syndrome

Objective: We assessed the usefulness of flow cytometry as a functional assay to measure glucose transporter 1 (GLUT1) levels on the surface of red blood cells (RBCs) from Japanese patients with glucose transporter 1 deficiency syndrome (Glut1DS). Methods: We recruited 13 genetically confirmed Glut1...

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Bibliographic Details
Main Authors: Sachie Nakamura, Yasushi Ito, Hiroko Hayakawa, Shiho Aoki, Takanori Yamagata, Hitoshi Osaka
Format: Article
Language:English
Published: Elsevier 2023-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922001148