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Updated: Jul 11, 2026

12:08
Improving IV Insulin Administration in a Community Hospital
Published on: June 11, 2012
3-フォスフォグリセラート-デヒドロゲネーゼ欠乏症の産前および早期産後治療
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
まとめ
希少な代謝障害である3-フォスフォグリセラート-脱水素酵素 (3-PGDH) 欠乏症は,現在,産前診断が可能です. 産前L-セリンのサプリメントは,発症した胎児を成功裏に治療し,発達上の問題を予防しました.
科学分野:
- バイオケミストリー バイオケミストリー
- 遺伝学 遺伝学とは
- 発達生物学 発達生物学とは
背景:
- 3-フォスフォグリセラート脱水素酵素 (3-PGDH) 欠乏症は,L-セリンの生物合成障害である.
- 生まれながらの小頭症,重度の精神運動遅延,治療不可能な発作が特徴です.
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