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- W3014564778 endingPage "2533" @default.
- W3014564778 startingPage "2533" @default.
- W3014564778 abstract "Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted storage systems which trigger complex pathogenic cascades with other organelles collaterally affected. This process leads to cell dysfunction and death, particularly in the central nervous system. One valuable approach to gaining insights into the global impact of lysosomal dysfunction is through metabolomics, which represents a discovery tool for investigating disease-induced modifications in the patterns of large numbers of simultaneously-analysed metabolites, which also features the identification of biomarkers Here, the scope and applications of metabolomics strategies to the investigation of sphingolipidoses is explored in order to facilitate our understanding of the biomolecular basis of these conditions. This review therefore surveys the benefits of applying ’state-of-the-art’ metabolomics strategies, both univariate and multivariate, to sphingolipidoses, particularly Niemann-Pick type C disease. Relevant limitations of these techniques are also discussed, along with the latest advances and developments. We conclude that metabolomics strategies are highly valuable, distinctive bioanalytical techniques for probing LSDs, most especially for the detection and validation of potential biomarkers. They also show much promise for monitoring disease progression and the evaluation of therapeutic strategies and targets." @default.
- W3014564778 created "2020-04-10" @default.
- W3014564778 creator A5011888790 @default.
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- W3014564778 creator A5078895245 @default.
- W3014564778 date "2020-04-05" @default.
- W3014564778 modified "2023-10-14" @default.
- W3014564778 title "Metabolomic Studies of Lipid Storage Disorders, with Special Reference to Niemann-Pick Type C Disease: A Critical Review with Future Perspectives" @default.
- W3014564778 cites W1012380478 @default.
- W3014564778 cites W1183801297 @default.
- W3014564778 cites W1522504526 @default.
- W3014564778 cites W1667221857 @default.
- W3014564778 cites W1765294315 @default.
- W3014564778 cites W1794989353 @default.
- W3014564778 cites W1964582581 @default.
- W3014564778 cites W1967917811 @default.
- W3014564778 cites W1975115082 @default.
- W3014564778 cites W1975248940 @default.
- W3014564778 cites W1975595058 @default.
- W3014564778 cites W1976327004 @default.
- W3014564778 cites W1978149966 @default.
- W3014564778 cites W1980647878 @default.
- W3014564778 cites W1991876246 @default.
- W3014564778 cites W1992360682 @default.
- W3014564778 cites W1992676031 @default.
- W3014564778 cites W1995863785 @default.
- W3014564778 cites W1995892611 @default.
- W3014564778 cites W1997966396 @default.
- W3014564778 cites W2000223473 @default.
- W3014564778 cites W2010555292 @default.
- W3014564778 cites W2022861593 @default.
- W3014564778 cites W2028245787 @default.
- W3014564778 cites W2028376387 @default.
- W3014564778 cites W2030332048 @default.
- W3014564778 cites W2032217388 @default.
- W3014564778 cites W2044913259 @default.
- W3014564778 cites W2048414392 @default.
- W3014564778 cites W2054660910 @default.
- W3014564778 cites W2055925857 @default.
- W3014564778 cites W2061864280 @default.
- W3014564778 cites W2073816000 @default.
- W3014564778 cites W2079188742 @default.
- W3014564778 cites W2081735281 @default.
- W3014564778 cites W2082577333 @default.
- W3014564778 cites W2083164275 @default.
- W3014564778 cites W2092639406 @default.
- W3014564778 cites W2103078286 @default.
- W3014564778 cites W2104787245 @default.
- W3014564778 cites W2111054661 @default.
- W3014564778 cites W2119469481 @default.
- W3014564778 cites W2119814716 @default.
- W3014564778 cites W2125802191 @default.
- W3014564778 cites W2129679875 @default.
- W3014564778 cites W2135817296 @default.
- W3014564778 cites W2137644470 @default.
- W3014564778 cites W2152259693 @default.
- W3014564778 cites W2180995368 @default.
- W3014564778 cites W2263913432 @default.
- W3014564778 cites W2335461127 @default.
- W3014564778 cites W2336942037 @default.
- W3014564778 cites W2346730544 @default.
- W3014564778 cites W2508709614 @default.
- W3014564778 cites W2517818891 @default.
- W3014564778 cites W2519587718 @default.
- W3014564778 cites W2522118079 @default.
- W3014564778 cites W2531287305 @default.
- W3014564778 cites W2556117923 @default.
- W3014564778 cites W2575129035 @default.
- W3014564778 cites W2612100813 @default.
- W3014564778 cites W2620418572 @default.
- W3014564778 cites W2622731880 @default.
- W3014564778 cites W2624757288 @default.
- W3014564778 cites W2737108899 @default.
- W3014564778 cites W2767683865 @default.
- W3014564778 cites W2791293303 @default.
- W3014564778 cites W2792318994 @default.
- W3014564778 cites W2793072626 @default.
- W3014564778 cites W2800838988 @default.
- W3014564778 cites W2801676455 @default.
- W3014564778 cites W2804385143 @default.
- W3014564778 cites W2810357795 @default.
- W3014564778 cites W2892101602 @default.
- W3014564778 cites W2907589549 @default.
- W3014564778 cites W2921621642 @default.
- W3014564778 cites W2922103994 @default.
- W3014564778 cites W2929961692 @default.
- W3014564778 cites W2950776601 @default.
- W3014564778 cites W2952619647 @default.
- W3014564778 cites W2959417386 @default.
- W3014564778 cites W2971454633 @default.
- W3014564778 cites W2973505555 @default.
- W3014564778 cites W2978929558 @default.
- W3014564778 cites W2981860805 @default.
- W3014564778 cites W3105630349 @default.
- W3014564778 cites W4234505218 @default.
- W3014564778 cites W4237174028 @default.