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A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)
(Elsevier, 2019)
We used a comprehensive metabolomics approach to study the altered urinary metabolome of two mitochondrial myopathy, encephalopathy lactic acidosis and stroke like episodes (MELAS) cohorts carrying the m.3243A>G mutation.
The ...
Metabolomics of Ndufs4−/− skeletal muscle: adaptive mechanisms converge at the ubiquinone-cycle
(Elsevier, 2019)
Leigh syndrome is one of the most common childhood-onset neurometabolic disorders resulting from a primary oxidative phosphorylation dysfunction and affecting mostly brain tissues. Ndufs4−/− mice have been widely used to ...