A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.
Jung Min KoKyung Sun ParkYeeok KangSeong Hyeuk NamYoonjung KimInho ParkHyun Wook ChaeSoon Min LeeKyung-A LeeJong Won KimPublished in: Yonsei medical journal (2018)
This integrated diagnostic workflow resulted in a high yield. This approach not only enabled early confirmation of specific IMD, but also detected conditions not included in the current NBS.
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