| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 11010897 | Molecular Genetics and Metabolism | 2018 | 6 Pages |
Abstract
In addition to the known abnormalities of lipoproteins, GSDI patients also have a disturbed sphingolipid metabolism with elevated plasma 1-deoxySL concentrations. 1-DeoxySA relates to the occurrence of low blood glucose, and may constitute a potential new biomarker for assessing metabolic control. GSDIa and Ib have distinct 1-deoxySL profiles indicating that both GSD subtypes have diverse phenotypes regarding lipid metabolism.
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Authors
Thorsten Hornemann, Irina Alecu, Niels Hagenbuch, Assem Zhakupova, Alessio Cremonesi, Matthias Gautschi, Hans H. Jung, Fabian Meienberg, Stefan Bilz, Emanuel Christ, Matthias R. Baumgartner, Michel Hochuli,