相关实验视频
Updated: Jul 11, 2026

12:08
Improving IV Insulin Administration in a Community Hospital
Published on: June 11, 2012
在产前和产后早期治疗3-糖酸脱酶缺乏症
T J de Koning1, L W J Klomp, A C C van Oppen
1Department of Metabolic Diseases, University Medical Centre Utrecht, Netherlands. t.dekoning@wkz.azu.nl
Lancet (London, England)
|December 22, 2004
概括
作为一种罕见的代谢障碍,3-糖酸脱酶 (3-PGDH) 缺乏症,现在可以在产前诊断. 产前L-氨酸补充剂成功地治疗了受影响的胎儿,防止了发育问题.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
背景情况:
- 3-糖酸脱酶 (3-PGDH) 缺乏症是一种L-氨酸生物合成障碍.
- 具有先天性小头症,严重的精神运动迟缓和难以治愈的的特征.
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