Browsing by Subject "MELAS"

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A metabolomics investigation of selected m.3243A>G mutation phenotypes

Esterhuizen, K. (North-West University, 2018)

Mitochondrial disease (MD) is a subgroup of inborn errors of metabolism, which can be caused by a mutation in either the nuclear DNA (nDNA) or mitochondrial DNA (mtDNA). One of the most common mtDNA disease causing mutations ...
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS)

Esterhuizen, Karien; Lindeque, J. Zander; Mason, Shayne; Van der Westhuizen, Francois H.; Louw, Roan (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 ...