Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
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.
Published in Nature communications (20.01.2017)
Published in Nature communications (20.01.2017)
Get full text
Journal Article
Correction to: The evolution of the mitochondrial disease diagnostic odyssey
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
Published in Orphanet journal of rare diseases (20.07.2023)
Published in Orphanet journal of rare diseases (20.07.2023)
Get full text
Journal Article
The evolution of the mitochondrial disease diagnostic odyssey
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
Published in Orphanet journal of rare diseases (22.06.2023)
Published in Orphanet journal of rare diseases (22.06.2023)
Get full text
Journal Article
Leukocyte cytokine responses in adult patients with mitochondrial DNA defects
Karan, Kalpita R., Trumpff, Caroline, Cross, Marissa, Engelstad, Kristin M., Marsland, Anna L., McGuire, Peter J., Hirano, Michio, Picard, Martin
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2022)
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2022)
Get full text
Journal Article
Allelic Variations of Glut-1 Deficiency Syndrome: The Chinese Experience
Liu, Yanyan, MD, Bao, Xinhua, MD, Wang, Dong, MD, Fu, Na, MD, Zhang, Xiaoying, MD, Cao, Guangna, MD, Song, Fuying, MD, Wang, Shuang, MD, Zhang, Yuehua, PhD, Qin, Jiong, MD, Yang, Hong, MD, Engelstad, Kristin, MS, De Vivo, Darryl C., MD, Wu, Xiru, MD
Published in Pediatric neurology (01.07.2012)
Published in Pediatric neurology (01.07.2012)
Get full text
Journal Article