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Updated: Jul 24, 2025

Isolation of Primary Mouse Retinal Pigmented Epithelium Cells
Published on: November 4, 2022
长时间的呼吸衰竭在孤立的同型氨酸重甲基化缺陷中对常规治疗有反应
Abigail Whitehouse1, Preeya Rehsi2, Louise Hartley3
1Department of Paediatric Respiratory Medicine, Barts Health NHS Trust Royal London Hospital London UK.
孤立的补甲基缺陷,罕见的遗传性疾病,可以导致婴儿的长期呼吸衰竭. 早期诊断和用氧和贝他因治疗对于康复至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 孤立的补甲基化缺陷是一种罕见的遗传代谢障碍,影响同型半氨酸转化为甲氨酸.
- 这些缺陷破坏了基本的甲基化反应,影响了神经系统的发育和功能.
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