Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots

Biomarker discovery in galactosemia: Metabolomics with UPLC/HRMS in dried blood spots

Introduction:Galactosemia (GAL) is a genetic disorder that results in disturbances in galactose metabolism and can lead to life-threatening complications. However, the underlying pathophysiology of long-term complications in GAL remains poorly understood.Methods: In this study, a metabolomics approa...

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Bibliographic Details
Main Authors: Ahmad N. Alodaib, Refat M. Nimer, Rowan Alhumaidy, Alaa Alhenaky, Mai Abdel Jabar, Reem H. AlMalki, Anas M. Abdel Rahman
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-04-01
Series:Frontiers in Molecular Biosciences
Subjects:
biomarker
dried blood spot
galactosemia
metabolomics
newborn screening (NBS)
ultra-performance liquid chromatography
Online Access:https://www.frontiersin.org/articles/10.3389/fmolb.2023.1154149/full

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https://www.frontiersin.org/articles/10.3389/fmolb.2023.1154149/full

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