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Article

Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.

European journal of medical genetics - 1 Oct 2023

Li Yu-Yu, Xu Jia, Sun Xue-Cheng, Li Hong-Yu, Mu Kai

Abstract excerpt

OBJECTIVES: This study aimed to investigate the incidence rate, clinical phenotype, gene variation spectrum, and prognosis of neonatal hyperhomocysteinemia (HHcy) and explore its diagnosis, individualised treatment, and prevention strategies. METHODS: We screened 84722 neonates for HHcy using liquid chromatography-tandem mass spectrometry (LC-MS/MS) combined with biochemical detection, urine gas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37673299
DOI: 10.1016/j.ejmg.2023.104836

Genes

MMACHC
MTHFR
GC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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