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Article

[Screening for hereditary tyrosinemia and genotype analysis in newborns].

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

Tong Fan, Yang Rulai, Liu Chang, Wu Dingwen, Zhang Ting, Huang Xinwen, Hong Fang, Qian Guling, Huang Xiaolei, Zhou Xuelian, Shu Qiang, Zhao Zhengyan

Abstract excerpt

OBJECTIVE: To analyze the results of screening for hereditary tyrosinemia (HT) in newborns and its clinical features and genotype. METHODS: The HT screening was conducted among 2 188 784 newborns from November 2013 to November 2018. The tyrosine (TYR)/ succinylacetone (SA) levels were detected by tandem mass spectrometry (MS-MS). The clinical characteristics, genetic results and following up data of identified...

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Source

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Identifiers

PMID: 31901053
DOI: 10.3785/j.issn.1008-9292.2019.08.18
PMCID: PMC8800675

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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