Titlebook: Clinical Metabolomics Applications in Genetic Diseases; Anas M. Abdel Rahman Book 2023 The Editor(s) (if applicable) and The Author(s), un

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Metabolomic Role in Personalized Medicine: An Update,ethod to provide the theoretical basis for individualized medical treatment. This chapter overviews clinical metabotyping, disease biomarker discovery, and pharmacometabolomics toward personalized medicine, improving drug efficacy. These three approaches enhance the understanding of the disease’s pa

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https://doi.org/10.1007/978-3-658-11366-7cal system. Targeted and quantitative MS-based assays containing relatively large panels of small molecules (metabolites) are routinely utilized for newborn screening (NBS), biochemical genetics testing, and toxicology. Broad nontargeted metabolomics investigations have found some utility in the afo

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Lothar Brock,Egbert Jahn,Reiner Steinwegpatient outcomes. Breaking the diagnostic barrier can mean new research, new drugs, and ultimately increased survival. In this chapter, we overview the concept of untargeted metabolomics as applied to newborn screening, how it fares compared to the well-standardized tests of the targeted screening,

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https://doi.org/10.1007/978-3-322-86202-0Ds can appear over the entire life span. Patients with particular MDs present a wide range of heterogeneous phenotypes with different levels of disease severity. The wide variety of leading causes and heterogenous phenotypes of MDs make diagnosing MDs notoriously challenging. Despite these challenge

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https://doi.org/10.1007/978-3-322-86202-0bolomic analysis techniques in pituitary disease will be a helpful clinical tool for significantly improving diagnosis and, potentially, the therapeutic approach by identifying highly specific disease biomarkers and novel molecular pathogenic mechanisms.