Associated Papers
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13.
Radenkovic S et al.
Cells, 2025
40358162 (PubMed )
Supplement: cells-14-00638-s001.zip › cells-3567913-supplementary.pdf
Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels in C. elegans.
Ősz F et al.
Antioxidants (basel, Switzerland), 2025
New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases.
Murgia C et al.
Nutrition & Metabolism, 2023
Molecular mechanism of interactions between ACAD9 and binding partners in mitochondrial respiratory complex I assembly.
Xia C et al.
Iscience, 2021
An atypical presentation of ACAD9 deficiency: Diagnosis by whole exome sequencing broadens the phenotypic spectrum and alters treatment approach.
Aintablian HK et al.
Molecular Genetics and Metabolism Reports, 2017
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.
Dewulf JP et al.
Molecular Genetics and Metabolism, 2016
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