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Article

[Genetic analysis of newborns with abnormal metabolism of 3-hydroxyisovalerylcarnitine].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences - 25 Jun 2019

Wu Dingwen, Lu Bin, Yang Jianbin, Yang Rulai, Huang Xinwen, Tong Fan, Zheng Jing, Zhao Zhengyan

Abstract excerpt

OBJECTIVE: To investigate the genetic characterization of 3-hydroxyisovalerylcarnitine (C5-OH) metabolic abnormality in neonates. METHODS: Fifty two newborns with increased C5-OH, C5-OH/C3 and C5-OH/C8 detected by tandem mass spectrometry during neonatal screening were enrolled in the study. Genomic DNA was extracted from the whole blood samples of 52 cases and their parents. Seventy-nine genes associated with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 31901042
DOI: 10.3785/j.issn.1008-9292.2019.08.07
PMCID: PMC8800779

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