A Targeted Metabolomics Approach for Clinical Diagnosis of Inborn Errors of Metabolism

Jacob, M.; Malkawi, A.; Albast, N., et al.

In an effort to improve biological interpretation in clinical research, Rahman and colleagues from King Faisal Specialist Hospital and Research Center developed a targeted LC-MS/MS metabolomics method to screen for a broad collection of inborn errors of metabolism (IEM) in rat and human tissues. The validated assay utilizes stable isotope standards and was demonstrated to be sensitive and robust in differential metabolic profiling of common IEMs.

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