Browsing by Subject "Respiratory chain deficiency"
Now showing items 1-4 of 4
-
Improving a biosignature for respiratory chain deficiencies in a South African cohort
(North-West University (South Africa) , Potchefstroom Campus, 2016)Mitochondria are the cell’s main energy producing site, found in the cytoplasm of nearly all eukaryotic cells. These organelles generate cellular energy in the form of adenosine triphosphate (ATP), mostly by means of the ... -
Metabolomics of mitochondrial disease
(Elsevier, 2017)Mitochondrial disease (MD) diagnostics and disease progression investigations have traditionally relied very little on metabolic data, due to a lack of biomarker sensitivity and specificity. The recent drive to find novel, ... -
An untargeted LC-MS investigation of South African children with respiratory chain deficiencies
(2014)Mitochondria are the main site of cellular adenosine triphosphate (ATP) generation which is achieved by a series of multi-subunit complexes and electron carriers which together create the oxidative hosphorylation system ... -
Untargeted urine metabolomics reveals a biosignature for muscle respiratory chain deficiencies
(Springer, 2015)Mitochondrial diseases are a heterogeneous group of disorders characterised by impaired mitochondrial oxidative phosphorylation system. Most often for mitochondrial disease, where no metabolic diagnostic biomarkers exist, ...