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Article

[Primary carnitine deficiency in 17 patients: diagnosis, treatment and follow up].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jun 2012

Han Lian-shu, Ye Jun, Qiu Wen-juan, Zhang Hui-wen, Wang Yu, Ji Wen-jun, Gao Xiao-lan, Li Xiao-yan, Jin Jing, Gu Xue-fan

Abstract excerpt

OBJECTIVE: Many children were found to have low free carnitine level in blood by tandem mass spectrometry technology. In some of the cases the problems occurred secondary to malnutrition, organic acidemia and other fatty acid oxidation metabolic diseases, and some of cases had primary carnitine deficiency (PCD). In the present article, we discuss the diagnosis of PCD and evaluate the efficacy of carnitine in the...

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PMID: 22931933

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