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- W4387195004 abstract "Genetic disorders (GD) affect hundreds of millions of lives worldwide, leading to specific molecular perturbations in the metabolic profile within a certain biological matrix. Metabolomic studies use advanced technologies (nuclear magnetic resonance (NMR) and mass spectrometry (MS)) with bioinformatics to identify and quantify a set of small molecules (such as carbohydrates, nucleic acids, amino acids, and lipids) present in a biological system. As metabolites represent the downstream product of gene and protein activity, they most likely reflect the phenotype of an organism at a specific time. Metabolomic studies provide novel insights into the underlying disease pathophysiological mechanisms, evaluate the progress of the disease, and identify unique biomarkers for the prediction of disease and therapeutic outcomes. This chapter highlights the applications of metabolomic techniques for biomarker discovery in GD. It discusses the workflow followed, the methods used for sample analysis and data interpretation, and the major challenges and limitations in applying the metabolomic approach for biomarker discovery in GD. Moreover, the chapter provides an overview of the biomarkers identified in four GD: cystic fibrosis, Down syndrome, sickle cell anemia, and glycogen storage disorders, highlighting the promising role of metabolomics in clinical applications." @default.
- W4387195004 created "2023-09-30" @default.
- W4387195004 creator A5021756364 @default.
- W4387195004 creator A5041187461 @default.
- W4387195004 date "2023-01-01" @default.
- W4387195004 modified "2023-09-30" @default.
- W4387195004 title "Metabolomics: A Pipeline for Biomarker Discovery in Genetic Diseases" @default.
- W4387195004 cites W1555263615 @default.
- W4387195004 cites W1559957057 @default.
- W4387195004 cites W1611854178 @default.
- W4387195004 cites W1891626881 @default.
- W4387195004 cites W1902487247 @default.
- W4387195004 cites W1971606140 @default.
- W4387195004 cites W1975081381 @default.
- W4387195004 cites W1975115082 @default.
- W4387195004 cites W1979246104 @default.
- W4387195004 cites W1985237517 @default.
- W4387195004 cites W1991047667 @default.
- W4387195004 cites W1993765803 @default.
- W4387195004 cites W2000186211 @default.
- W4387195004 cites W2003517551 @default.
- W4387195004 cites W2009699118 @default.
- W4387195004 cites W2028896924 @default.
- W4387195004 cites W2031189531 @default.
- W4387195004 cites W2032555174 @default.
- W4387195004 cites W2043262717 @default.
- W4387195004 cites W2045997821 @default.
- W4387195004 cites W2046445257 @default.
- W4387195004 cites W2052437713 @default.
- W4387195004 cites W2055261499 @default.
- W4387195004 cites W2057645759 @default.
- W4387195004 cites W2060733138 @default.
- W4387195004 cites W2060925218 @default.
- W4387195004 cites W2063221437 @default.
- W4387195004 cites W2073371472 @default.
- W4387195004 cites W2084104744 @default.
- W4387195004 cites W2089041399 @default.
- W4387195004 cites W2101417989 @default.
- W4387195004 cites W2102768596 @default.
- W4387195004 cites W2105687332 @default.
- W4387195004 cites W2107276895 @default.
- W4387195004 cites W2116723965 @default.
- W4387195004 cites W2130999308 @default.
- W4387195004 cites W2150977134 @default.
- W4387195004 cites W2154631167 @default.
- W4387195004 cites W2160823906 @default.
- W4387195004 cites W2164469733 @default.
- W4387195004 cites W2171564382 @default.
- W4387195004 cites W2300807558 @default.
- W4387195004 cites W2335026184 @default.
- W4387195004 cites W2504097392 @default.
- W4387195004 cites W2507908474 @default.
- W4387195004 cites W2550469869 @default.
- W4387195004 cites W2555687332 @default.
- W4387195004 cites W2555982904 @default.
- W4387195004 cites W2586444320 @default.
- W4387195004 cites W2601239009 @default.
- W4387195004 cites W2609624643 @default.
- W4387195004 cites W2694111924 @default.
- W4387195004 cites W2740017049 @default.
- W4387195004 cites W2748907770 @default.
- W4387195004 cites W2755881615 @default.
- W4387195004 cites W2765476861 @default.
- W4387195004 cites W2787501820 @default.
- W4387195004 cites W2787687656 @default.
- W4387195004 cites W2801415000 @default.
- W4387195004 cites W2802048215 @default.
- W4387195004 cites W2802315205 @default.
- W4387195004 cites W2807581161 @default.
- W4387195004 cites W2808965743 @default.
- W4387195004 cites W2890434658 @default.
- W4387195004 cites W2891925028 @default.
- W4387195004 cites W2893496195 @default.
- W4387195004 cites W2897896320 @default.
- W4387195004 cites W2899838344 @default.
- W4387195004 cites W2902028677 @default.
- W4387195004 cites W2902421582 @default.
- W4387195004 cites W2916376502 @default.
- W4387195004 cites W2922939447 @default.
- W4387195004 cites W2940542436 @default.
- W4387195004 cites W2943714341 @default.
- W4387195004 cites W2944463263 @default.
- W4387195004 cites W2949466447 @default.
- W4387195004 cites W2969551593 @default.
- W4387195004 cites W2969664314 @default.
- W4387195004 cites W2978181983 @default.
- W4387195004 cites W2988003633 @default.
- W4387195004 cites W3000041591 @default.
- W4387195004 cites W3001258059 @default.
- W4387195004 cites W3014825197 @default.
- W4387195004 cites W3015421789 @default.
- W4387195004 cites W3016827654 @default.
- W4387195004 cites W3028802913 @default.
- W4387195004 cites W3033117601 @default.
- W4387195004 cites W3034230964 @default.
- W4387195004 cites W3037271771 @default.
- W4387195004 cites W3045550518 @default.
- W4387195004 cites W3081329629 @default.