Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
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| Title: | Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13. |
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| Authors: | Radenkovic, Silvia1,2,3,4,5 (AUTHOR), Adant, Isabelle1,2,3 (AUTHOR), Bird, Matthew J.1,2,3,6 (AUTHOR), Swinnen, Johannes V.4,7 (AUTHOR), Cassiman, David2,5,8 (AUTHOR), Kozicz, Tamas4,6,9 (AUTHOR), Gruenert, Sarah C.7,10 (AUTHOR), Ghesquière, Bart1,3,8 (AUTHOR), Morava, Eva4,9 (AUTHOR) eva.morava@mssm.edu |
| Source: | Cells (2073-4409). May2025, Vol. 14 Issue 9, p638. 18p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 20734409 |
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| DOI: | 10.3390/cells14090638 |
