Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

Silvia Radenkovic, Isabelle Adant, Matthew J Bird,Johannes V Swinnen,David Cassiman,Tamas Kozicz, Sarah C Gruenert,Bart Ghesquière,Eva Morava

Cells（2025）

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Key words

congenital disorder of glycosylation,Leigh syndrome,inborn errors of metabolism,PGM1,NDUFA13,metabolomics

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