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Article

[Genetic diagnosis of 10 neonates with primary carnitine deficiency].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2017

Tan Jian-Qiang, Chen Da-Yu, Li Zhe-Tao, Yan Ti-Zhen, Huang Ji-Wei, Cai Ren

Abstract excerpt

OBJECTIVE: To study the gene mutation profile of primary carnitine deficiency (PCD) in neonates, and to provide a theoretical basis for early diagnosis and treatment, genetic counseling, and prenatal diagnosis of PCD. METHODS: Acylcarnitine profile analysis was performed by tandem mass spectrometry using 34 167 dry blood spots on filter paper. The SLC22A5 gene was sequenced and analyzed in neonates with free...

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PMID: 29132460
PMCID: PMC7389330

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