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- W4225001923 abstract "Inborn errors of metabolism (IEMs) are rare diseases caused by a defect in a single enzyme, co-factor, or transport protein. For most IEMs, no effective treatment is available and the exact disease mechanism is unknown. The application of metabolomics and, more specifically, tracer metabolomics in IEM research can help to elucidate these disease mechanisms and hence direct novel therapeutic interventions. In this review, we will describe the different approaches to metabolomics in IEM research. We will discuss the strengths and weaknesses of the different sample types that can be used (biofluids, tissues or cells from model organisms; modified cell lines; and patient fibroblasts) and when each of them is appropriate to use." @default.
- W4225001923 created "2022-04-29" @default.
- W4225001923 creator A5007384625 @default.
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- W4225001923 date "2022-04-27" @default.
- W4225001923 modified "2023-10-14" @default.
- W4225001923 title "Understanding Inborn Errors of Metabolism through Metabolomics" @default.
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- W4225001923 doi "https://doi.org/10.3390/metabo12050398" @default.
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