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Endocrine Abstracts

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ea0070aep309 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

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

Tamara Mathis , Martin Poms , Matthias Gautschi , Barbara Plecko , Matthias Baumgartner , Hochuli Michel

Background/Introduction: The primary metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (e.g. hypertriglyceridemia, hyperlactatemia, hyperuricemia). The aim of this study was to broadly assess further perturbations of the metabolic network in GSDI by using untargeted plasma metabolomics.Methods: Plasma samples of 14 adult GSDI patients (11 GSDIa, 3 GSDIb. Mean age 26.4&...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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