The evolution of the mitochondrial disease diagnostic odyssey

por 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
Publicado 2023

Correction to: The evolution of the mitochondrial disease diagnostic odyssey

por 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
Publicado 2023

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

por 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.
Publicado 2017