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[Clinical and genetic characteristics of primary carnitine deficiency identified by neonatal screening].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2019

Li Xiaole, Zhu Xinyun, Jia Chenlu, Ni Min, Li Ying, Zhang Linlin, Zhao Dehua

Abstract excerpt

OBJECTIVE: To study the prevalence, clinical and genetic characteristics of primary carnitine deficiency (PCD). METHODS: From January 2013 to December 2017, 720 667 newborns and their mothers were tested for PCD by tandem mass spectrometry. Potential mutations of carnitine transporter gene SLC22A5 among suspected PCD patients were analyzed. Dietary guidance and L-carnitine supplementation were provided to the...

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PMID: 31813139
DOI: 10.3760/cma.j.issn.1003-9406.2019.12.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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