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

Seeking stability for gene addition in inborn errors of metabolism

寻求基因添加在先天性代谢缺陷中的稳定性

von Beck, Troy; Koeberl, Dwight D

Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease

新型启动子驱动治疗性转基因表达,并在庞贝病小鼠模型中逃避转基因特异性免疫反应

Sun, Baodong; Yi, Haiqing; Han, Sang-Oh; Li, Songtao; Eisner, William; Brooks, Elizabeth D; Bacon, Rebecca; Koeberl, Dwight D

Developing therapeutics for rare cardiovascular diseases

开发罕见心血管疾病的治疗方法

Lerman, Joseph B; Koeberl, Dwight D; Epstein, Shilpi; Roessig, Lothar; Stan, Rodica; Halley, Meghan; Owens, Anjali T; Greenberg, Barry; Alexander, Kevin M; Day, Sharlene M; Maurer, Mathew S; Adler, Eric D; Hernandez, Adrian F; Ashley, Euan A; Felker, G Michael

Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study

丙酸血症临床事件发生频率特征及生物标志物评估:一项自然史研究

Schwahn, Bernd C; Berry, Gerard T; Vernon, Hilary J; Li, Hong; Merritt Ii, J Lawrence; Schiff, Manuel; Chabrol, Brigitte; De Las Heras, Javier; Vockley, Jerry; Lee, Chung; Koeberl, Dwight D; Burton, Barbara K; Grunewald, Stephanie; Diaz, George A; Ficicioglu, Can; Morgan, Thomas; Luo, Junxiang; Attarwala, Husain; Liang, Min; Perera, Sue; Sikirica, Vanja

Longitudinal characterization of Gaac.1826dupA mice reveals the cardiac, myopathic and biochemical phenotypes of Pompe disease

对 Gaac.1826dupA 小鼠的纵向特征分析揭示了庞贝病的心脏、肌病和生化表型

Harb, Jerry F; Kan, Shih-Hsin; Christensen, Chloe L; Rha, Allisandra K; Andrade-Heckman, Perla; Kliman, Agatha; Padilla, Alejandra; Holbrook, Cora; Huang, Jeffrey Y; Koeberl, Dwight D; Wang, Raymond Y

Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study

对患有 X 连锁肌酸转运蛋白缺乏症的男性进行纵向特征分析:一项多年观察性研究的最终结果

Miller, Judith S; Farmer, Cristan; Blair, Susan; Bianconi, Simona; Akshoomoff, Natacha; Anselm, Irina; Barshop, Bruce A; Becker, Lindsey; Bennett, Amanda E; Berry, Leandra N; Berry-Kravis, Elizabeth M; Bruchey, Aleksandra; Byars, Anna W; Cimms, Tricia; Cecil, Kim M; Covello, Maxine; Cubit, Laura S; Das, Tanvi; Davis, Robert J; Drye, Madison; Ficicioglu, Can; Fulton, John B; Goin-Kochel, Robin P; Guthrie, Whitney; Hallinan, Barbara E; Hannah-Shmouni, Fady; Gustafson, Kathryn E; Koeberl, Dwight D; Longo, Nicola; Mamak, Eva; Mercimek-Andrews, Saadet; Michalak, Claire; Porter, Forbes D; Rahhal, Samar; Rees, Linda; Spiridigliozzi, Gail A; Stone, Caitlin; Sullivan, Nancy R; Sutton, V Reid; Thomas, Rebecca P; Udhnani, Manisha; Waisbren, Susan; Xu, Michelle; Zhang, Lin; Brandabur, Melanie; Thurm, Audrey

Efficacious genome editing in infant mice with glycogen storage disease type Ia

在患有 Ia 型糖原贮积症的幼鼠中进行有效的基因组编辑

Arnson, Benjamin; Ilich, Ekaterina; von Beck, Troy; Li, Songtao; Brooks, Elizabeth D; Gheorghiu, Dorothy; He, Gordon; Weinrub, Matthew; Chan, Sze Ying; Kang, Hye-Ri; Courtney, David; Everitt, Jeffrey I; Cullen, Bryan R; Koeberl, Dwight D

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing

及时干预HMG-CoA裂解酶缺乏症:新生儿筛查、代谢管理和基因组测序的作用

Menkovic, Iskren; Makhijani, Neelam; Francescatto, Ludmila; Pendyal, Surekha; Stanley, Christine; Young, Sarah P; Koeberl, Dwight D; Niyazov, Dmitriy; Stiles, Ashlee R

Staying on target in gene and cell therapy

在基因和细胞治疗中保持精准性

Bricker-Anthony, Rory; Koeberl, Dwight D; Lipshutz, Gerald S; Perna, Fabiana

Gene therapy for glycogen storage diseases

糖原贮积症的基因疗法

Koeberl, Dwight D; Koch, Rebecca L; Lim, Jeong-A; Brooks, Elizabeth D; Arnson, Benjamin D; Sun, Baodong; Kishnani, Priya S