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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 ...
Use of metabolomics to elucidate the metabolic perturbation associated with hypertension in a black South African male cohort: the SABPA study
(Elsevier, 2015)
There is concern about the increasing burden of essential hypertension in urban–dwelling black South Africans, especially
males. Several studies have investigated urbanization and hypertension in South Africans, but ...
Disclosure of a putative biosignature for respiratory chain disorders through a metabolomics approach
(Springer, 2013)
The diagnosis of respiratory chain deficiencies
(RCDs) is complicated and the need for a diagnostic biomarker
or biosignature has been widely expressed. In this
study, the metabolic profile of a selected group of 29 ...
Metabolomics of urinary organic acids in respiratory chain deficiencies in children
(Springer, 2012)
Metabolomic analysis of the urinary organic
acids from 39 selected children with defined respiratory
chain deficiencies (RCDs) was performed using untargeted
gas chromatography–mass spectrometry, revealing the
presence ...
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, ...