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MOCS1基因突变致钼辅酶缺乏症1例
A boy attended the hospital at the age of 1 month due to left hand tremor for 1 week. A blood test showed a reduction in serum uric acid and a cranial MRI showed encephalomalacia, atrophy, and cystic changes. The boy had microcephalus, unusual facial features (long face, long forehead, protruded for...
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| 出版年: | Zhongguo Dang Dai Er Ke Za Zhi |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
中国当代儿科杂志编辑部
2021
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8050547/ https://ncbi.nlm.nih.gov/pubmed/33840416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2101055 |
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