Article

Increased primary carnitine deficiency detection through second-tier newborn genetic screening

2021-01-29

Abstract excerpt

<title>Abstract</title> <p>Background Newborn screening for (NBS) for primary carnitine deficiency (PCD) is widely implemented worldwide, however, with poor sensitivity. This study aimed to evaluate the feasibility of improving the screening using second-tier genetic assay. Methods An Agena iPLEX assay was developed to identify 17 <italic>SLC22A5</italic> mutations in the Chinese populations, then this assay wa...

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Literature Corpus work: f228bcad-4d45-5c50-bd59-b9ddb1278cd8
DOI: 10.21203/rs.3.rs-154835/v1

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