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1H NMR-Linked Urinary Metabolic Profiling of Niemann-Pick Class C1 (NPC1) Disease: Identification of Potential New Biomarkers using Correlated Component Regression (CCR) and Genetic Algorithm (GA) Analysis Strategies

[ Vol. 2 , Issue. 2 ]


Victor Ruiz-Rodado, Rafael Marcos Luque-Baena, Danielle te Vruchte, Fay Probert, Robin H. Lachmann, Christopher J. Hendriksz, James E. Wraith, Jackie Imrie, David Elizondo, Daniel Sillence, Peter Clayton, Frances M. Platt and Martin Grootveld   Pages 88 - 121 ( 34 )


Niemann-Pick Class 1 (NPC1) disease is a rare, debilitating neurodegenerative lysosomal storage disease; however, urinary biomarkers available for it and its prognosis are currently limited. In order to identify and establish such biomarkers, we employed high-resolution 1H NMR analysis coupled to a range of multivariate (MV) analysis approaches, i.e. PLS-DA, RFs and uniquely the cross-validated correlated component regression (CCR) strategy in order to discern differences between the urinary metabolic profiles of 13 untreated NPC1 disease and 47 heterozygous (parental) carrier control participants. Novel computational intelligence techniques (CITs) involving genetic algorithms (GAs) were also employed for this purpose. These 1


3-Aminoisobutyrate, bile acids, correlated component regression, genetic algorithms, metabolomics, niemann-Pick type C disease, nuclear magnetic resonance spectroscopy, urine.


1Leicester School of Pharmacy, De Montfort University, The Gateway, Leicester LE1 9BH, UK.

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