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
PubMed
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.