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
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ et al.
Metabolites, 2019
Mitochondrial disorders in children: toward development of small-molecule treatment strategies.
Koopman WJ et al.
Embo Molecular Medicine, 2016
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.
Ngu LH et al.
Biochimica Et Biophysica Acta, 2012
Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.
Janssen AJ et al.
Clinical Chemistry, 2006
Select a paper to view details