A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous.
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SUBMITTER: Zhang C
PROVIDER: S-EPMC9589887 | biostudies-literature | 2022
REPOSITORIES: biostudies-literature
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A preliminary investigation of amino acid and acylcarnitine levels in neonates from the Tibet autonomous.
Zhang Chunyan C Dha Drun D Cheng Yuxuan Y Ma Ya Y Meng Yan Y Tse Drun D Ngawang Dolma D Dekyi Pedrun P Jiang Tao T Shu Yang Y Cui Jiayi J Li Jing J Tian Yaping Y
Frontiers in genetics 20220926
<b>Background:</b> The purpose of the study was to investigate the levels of amino acids and acylcarnitines in newborns of the Tibet Autonomous Region for the first time and to provide an experimental basis for the diagnosis of genetic metabolic diseases. <b>Methods:</b> We detected concentrations of 43 kinds of amino acids, acylcarnitines and succinylacetone in the dried blood spots of 18482 newborns using liquid chromatography tandem mass spectrometry and diagnose the case by gene sequencing. ...[more]
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