reatine :

Aloïse Mabondzo1, Jiddeke van de Kamp2, Saadet Mercimek-Andrews3

  • 1Paris Saclay University, CEA, Medicines and Healthcare Technologies Department (MTS), SPI, Neurovascular Unit Research and Therapeutic Innovation Laboratory, 91191, Gif-sur-Yvette cedex, France. Aloise.mabondzo@cea.fr.

概括

肌酸载体基因 (SLC6A8) 中的致病变体会导致肌酸载体缺陷 (CTD),导致神经发育问题. 多基克reatine Ester显示出作为CTD的新型治疗剂的前景.