Analysis of genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine.
Wu D, Yang R, Fang K, Liu C, Tang J, Yu M, Zhao Z.
Wu D, et al.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Dec 7;52(6):707-713. doi: 10.3724/zdxbyxb-2023-0459.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023.
PMID: 38105686
Free PMC article.
Chinese, English.
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 Chi …
OBJECTIVES: To investigate the genotypes and biochemical phenotypes of neonates with abnormal metabolism of butyrylcarnitine ( …