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多种酰基辅酶A脱氢酶缺乏症患儿ETFDH基因新突变研究
This article reports the results of tandem mass spectrometry and the mutation features of the ETFDH gene for an infant with multiple acyl-CoA dehydrogenase defciency. The results of tandem mass spectrometry showed that C14:1, C8, C6, C10, and C12 increased. Exon sequencing was performed on this infa...
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| Veröffentlicht in: | Zhongguo Dang Dai Er Ke Za Zhi |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
中国当代儿科杂志编辑部
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389198/ https://ncbi.nlm.nih.gov/pubmed/30022752 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.07.003 |
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