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[Clinical features and gene mutations of 6 patients with carnitine palmitoyltransferase 1A deficiency].

Zhonghua yi xue za zhi - 13 Apr 2021

Yu Y, Shen L H, Qiu W J, Zhang H W, Ye J, Liang L L, Wang Y, Ji W J, Gu X F, Han L S

Abstract excerpt

The clinical and biochemical data and gene sequencing results of patients with carnitine palmitoyltransferase 1A deficiency were analyzed, in order to improve the understanding of the disease. Six patients (5 males and 1 female, aged from 1 to 8 years old) with carnitine palmitoyltransferase 1A deficiency from Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital between 2008 and 2019 were...

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PMID: 33845545
DOI: 10.3760/cma.j.cn112137-20200724-02206

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