Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy

GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-<i>N</i>-acetylglucosamine 2-epimerase (UDP-GlcNAc 2-epim...

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Bibliographic Details
Main Authors: Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Molecules
Subjects:
GNE myopathy
HIBM
Nonaka myopathy
GNEM biomarkers
carnitines
lysophosphocholines
Online Access:https://www.mdpi.com/1420-3049/29/21/5211
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