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[Analysis of metabolic profile and genetic variants for newborns with primary carnitine deficiency from Guangxi].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Geng Guoxing, Yang Qi, Fan Xin, Lin Caijuan, Wu Liulin, Chen Shaoke, Luo Jingsi

Abstract excerpt

OBJECTIVE: To analyze the metabolic profile and genetic variants for newborns with primary carnitine deficiency (PCD) from Guangxi, China. METHODS: From January 2014 to December 2019, 400 575 newborns from the jurisdiction of Guangxi Zhuang Autonomous Region Newborn Screening Center were subjected to tandem mass spectrometry (MS/MS) analysis. Newborns with positive results for PCD and their mothers were recalled...

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PMID: 34729741
DOI: 10.3760/cma.j.cn511374-20200805-00586

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