日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

The evolution of the mitochondrial disease diagnostic odyssey

线粒体疾病诊断历程的演变

Thompson, John L P; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M; Buchsbaum, Richard; Rosales, Xiomara Q; Hirano, Michio

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

更正:线粒体疾病诊断历程的演变

Thompson, John L P; Karaa, Amel; Pham, Hung; Yeske, Philip; Krischer, Jeffrey; Xiao, Yi; Long, Yuelin; Kramer, Amanda; Dimmock, David; Holbert, Amy; Gorski, Cliff; Engelstad, Kristin M; Buchsbaum, Richard; Rosales, Xiomara Q; Hirano, Michio

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein.

早期补充葡萄糖转运蛋白-1 可预防脑微血管缺陷和 Glut1 缺乏症

Tang Maoxue, Gao Guangping, Rueda Carlos B, Yu Hang, Thibodeaux David N, Awano Tomoyuki, Engelstad Kristin M, Sanchez-Quintero Maria-Jose, Yang Hong, Li Fanghua, Li Huapeng, Su Qin, Shetler Kara E, Jones Lynne, Seo Ryan, McConathy Jonathan, Hillman Elizabeth M, Noebels Jeffrey L, De Vivo Darryl C, Monani Umrao R