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Article

Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 7 Dec 2023

Wu Dingwen, Yang Rulai, Fang Kexin, Liu Chen, Tang Jiaming, Yu Meijun, Zhao Zhengyan

Abstract excerpt

OBJECTIVES: To investigate the genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine (C4). METHODS: One hundred and twenty neonates with increased C4 levels detected by tandem mass spectrometry in the neonatal screening at Children's Hospital, Zhejiang University School of Medicine from January 2018 to June 2023 were included. The initial screening data and recalled data of...

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Identifiers

PMID: 38105686
DOI: 10.3724/zdxbyxb-2023-0459
PMCID: PMC10764187

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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