Article

Metabolic profiling for biomarker discovery in biochemical genetics

2013-01-01

Abstract excerpt

Functional characterization of the phenotypic consequences of genetic variants increasingly constitutes the rate-limiting step in the study of biochemical genetics. This thesis presents the application of metabolic profiling technologies, including Nuclear Magnetic Resonance (NMR) spectroscopy and Mass Spectrometry (MS), to identify metabolic perturbations resulting from inborn errors of metabolism, congenital dis...

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Literature Corpus work: 4053126f-c56e-5c82-94f6-c72d62c0b237
DOI: 10.25560/41473

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