A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

CONCLUSION: 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.
PMID: 29869463 [PubMed - in process]

Source: Yonsei Medical Journal - June 6, 2018 Category: Universities & Medical Training Authors: Ko JM, Park KS, Kang Y, Nam SH, Kim Y, Park I, Chae HW, Lee SM, Lee KA, Kim JW Tags: Yonsei Med J Source Type: research