在两名患有D-2-基氨酸酸尿症,携带生殖系IDH2突变的个体中治疗enasidenib
Birgit Geoerger1,2, Manuel Schiff3,4, Virginie Penard-Lacronique5
1Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France. birgit.geoerger@gustaveroussy.fr.
Nature medicine
|May 29, 2023
概括
通过使D-2-HG水平正常化,Enasidenib有效地治疗了D-2-hydroxyglutaric aciduria II型 (D2HGA2). 这种代谢障碍治疗改善了受影响儿童的心脏功能和日常功能.
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:
- 二型D-2-基酸氨酸尿症 (D2HGA2) 是一种严重的遗传代谢障碍.
- 它是由同位素脱酶2 (IDH2) 基因中的异位素R140突变引起的.
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