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中、短链酰基辅酶A脱氢酶缺乏症患儿临床特点分析及基因突变研究
Medium-and short-chain acyl-CoA dehydrogenase deficiency is a disorder of fatty acid β-oxidation. Gene mutation prevents medium-and short-chain fatty acids from entry into mitochondria for oxidation, which leads to multiple organ dysfunction. In this study, serum acylcarnitines and the organic acid...
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| Vydáno v: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
中国当代儿科杂志编辑部
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389536/ https://ncbi.nlm.nih.gov/pubmed/27751224 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2016.10.021 |
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