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Article

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

Yonsei medical journal - 1 Jul 2018

Ko Jung Min, Park Kyung Sun, Kang Yeeok, Nam Seong Hyeuk, Kim Yoonjung, Park Inho, Chae Hyun Wook, Lee Soon Min, Lee Kyung A, Kim Jong Won

Abstract excerpt

PURPOSE: We developed a new workflow design which included results from both biochemical and targeted gene sequencing analysis interpreted comprehensively. We then conducted a pilot study to evaluate the benefit of this new approach in newborn screening (NBS) and demonstrated the efficiency of this workflow in detecting causative genetic variants. MATERIALS AND METHODS: Ten patients in Group 1 were diagnosed...

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Identifiers

PMID: 29869463
DOI: 10.3349/ymj.2018.59.5.652
PMCID: PMC5990675

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