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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

BACKGROUND: The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (eg, hypertriglyceridemia, hyperlactatemia, hyperuricemia). The aim of this study was to assess further perturbations of the metabolic network in G...

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Detalles Bibliográficos
Autores principales: Mathis, Tamara, Poms, Martin, Köfeler, Harald, Gautschi, Matthias, Plecko, Barbara, Baumgartner, Matthias R., Hochuli, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9299190/
https://www.ncbi.nlm.nih.gov/pubmed/34671989
http://dx.doi.org/10.1002/jimd.12451