Browsing Faculty of Natural and Agricultural Sciences by Subject "urinary organic acids"
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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 ... -
Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach
(Springer, 2013)Isovaleric acidemia (IVA, MIM 248600) can be a severe and potentially life-threatening disease in affected neonates, but with a positive prognosis on treatment for some phenotypes. This study presents the first ...