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Article

Newborn screening for primary carnitine deficiency using a second-tier genetic test.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Feb 2024

Lin Yiming, Lin Chunmei, Zheng Zhenzhu, Huang Chenggang, Peng Weilin

Abstract excerpt

OBJECTIVES: Newborn screening (NBS) for primary carnitine deficiency (PCD) exhibits suboptimal performance. This study proposes a strategy to enhance the efficacy of second-tier genetic screening by adjusting the cutoff value for free carnitine (C0). METHODS: Between January 2021 and December 2022, we screened 119,898 neonates for inborn metabolic disorders. Neonates with C0 levels below 12 μmol/L were randomly...

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Source

Identifiers

PMID: 38158618
DOI: 10.1515/jpem-2023-0513

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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