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- W3036708931 endingPage "209" @default.
- W3036708931 startingPage "195" @default.
- W3036708931 abstract "Lysosomal storage disorders (LSDs) are characterized by the accumulation of specific disease substrates inside the lysosomes of various cells, eventually leading to the deterioration of cellular function and multisystem organ damage. With the continuous discovery and validation of novel and advanced therapies for most LSDs, there is an urgent need to discover more versatile and clinically relevant biomarkers. The utility of these biomarkers should ideally extend beyond the screening and diagnosis of LSDs to the evaluation of disease severity and monitoring of therapy. Metabolomic and proteomic approaches provide the means to the discovery and validation of such novel biomarkers. This is achieved mainly through the application of various mass spectrometric techniques to common and easily accessible biological samples, such as plasma, urine and dried blood spots. In this review, we tried to summarize the complexity of the lysosomal disorders phenotypes, their current diagnostic and therapeutic approaches, the various techniques supporting metabolomic and proteomic studies and finally we tried to explore the newly discovered biomarkers for most LSDs and their reported clinical values." @default.
- W3036708931 created "2020-06-25" @default.
- W3036708931 creator A5086156172 @default.
- W3036708931 creator A5091523943 @default.
- W3036708931 date "2020-10-01" @default.
- W3036708931 modified "2023-09-26" @default.
- W3036708931 title "Novel biomarkers for lysosomal storage disorders: Metabolomic and proteomic approaches" @default.
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