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3-羟基异丁酰辅酶A水解酶缺乏症一例诊治体会并文献复习
A case of 3-hydroxyisobutyryl-CoA hydrolase deficiency was reported, and its clinical features, gene mutation characteristics, and diagnosis and treatment were analyzed with reference to related literature. The patient aged 1 year and 6 months had developmental regression and paroxysmal dystonia aft...
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| Veröffentlicht in: | Zhongguo Dang Dai Er Ke Za Zhi |
|---|---|
| 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/PMC7389760/ https://ncbi.nlm.nih.gov/pubmed/30111474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.08.009 |
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