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

Eladocagene Exuparvovec for the Treatment of Aromatic L-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective

埃拉多卡吉内·埃苏帕沃韦克治疗芳香族L-氨基酸脱羧酶缺乏症(AADCd):美国视角下的经济评价

Zhang, Rongrong; O'Connell, Thomas; Monteleone, Berrin; Teng, Yixi; Hwu, Paul Wuh-Liang; Castellano, Paul; Tomazos, Ioannis

Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up

使用磁共振兼容套管对芳香族L-氨基酸脱羧酶缺乏症患儿进行壳核内注射Eladocagene Exuparvovec的药效学、疗效和安全性研究:48周随访

Curry, Daniel J; Pearl, Phillip L; Stone, Scellig S D; Gilbert, Donald L; Vadivelu, Sudhakar; Ben-Zeev, Bruria; Vestal, Matthew; Zafar, Muhammad; Tai, Chun-Hwei; Chou, Sheng-Che; Zibly, Zion; Ungar, Lior; Parnes, Mered; Hull, Mariam; Emrick, Lisa; Werner, Christian; Krolick, Alexis; Penematsa, Vinay; Wang, Antonia; Rahman, Rezwanur; Golden, Lee; Chien, Yin-Hsiu; Hwu, Paul Wuh-Liang

Pathogenic Variants and Olipudase Alfa Treatment of Patients With Acid Sphingomyelinase Deficiency in Taiwan

台湾酸性鞘磷脂酶缺乏症患者的致病变异及奥利普达酶α治疗

Lin, Hsu-Heng; Chen, Hui-An; Lin, Shyh-Jer; Hsu, Rai-Hseng; Lee, Ni-Chung; Hwu, Wuh-Liang; Ni, Yen-Hsuan; Chou, Yen-Yin; Chiu, Pao-Chin; Peng, Steven Shinn-Forng; Chien, Yin-Hsiu

Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World Experience

基于全外显子组测序的台湾人群药物基因组学预测——一项真实世界研究

Lin, Hsu-Heng; Tsai, Meng-Ju Melody; Chen, Hui-An; Hsu, Rai-Hseng; Lin, Yun-Syuan; Lin, Yi-Lin; Hsu, Ching; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung

Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study.

慢病毒修饰的造血干细胞基因疗法治疗晚期症状性青少年异染性脑白质营养不良:一项长期随访试点研究

Zhang Zhao, Jiang Hua, Huang Li, Liu Sixi, Zhou Xiaoya, Cai Yun, Li Ming, Gao Fei, Liang Xiaoting, Tsang Kam-Sze, Chen Guangfu, Ma Chui-Yan, Chai Yuet-Hung, Liu Hongsheng, Yang Chen, Yang Mo, Zhang Xiaoling, Han Shuo, Du Xin, Chen Ling, Hwu Wuh-Liang, Zhuo Jiacai, Lian Qizhou

Current clinical applications of AAV-mediated gene therapy

目前AAV介导的基因治疗的临床应用

Byrne, Barry J; Flanigan, Kevin M; Matesanz, Susan E; Finkel, Richard S; Waldrop, Megan A; D'Ambrosio, Eleonora S; Johnson, Nicholas E; Smith, Barbara K; Bönnemann, Carsten; Carrig, Sean; Rossano, Joseph W; Greenberg, Barry; Lalaguna, Laura; Lara-Pezzi, Enrique; Subramony, Sub; Corti, Manuela; Mercado-Rodriguez, Claudia; Leon-Astudillo, Carmen; Ahrens-Nicklas, Rebecca; Bharucha-Goebel, Diana; Gao, Guangping; Gessler, Dominic J; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Boye, Sanford L; Boye, Shannon E; George, Lindsey A

NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish

NDUFB7 突变导致人类和斑马鱼的脑神经元缺陷、乳酸性酸中毒和线粒体功能障碍

Yen-Lin Chen #, Brian Hon-Yin Chung #, Masakazu Mimaki, Shumpei Uchino, Yin-Hsiu Chien, Christopher Chun-Yun Mak, Steven Shinn-Forng Peng, Wei-Chen Wang, Yu-Li Lin, Wuh-Liang Hwu, Shyh-Jye Lee, Ni-Chung Lee3

Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases.

PAICS 缺陷的临床谱系不断扩大:对两例同胞病例的综合分析

Weng Wen-Chin, Skopova Vaclava, Baresova Veronika, Liu Yao-Lin, Hsueh Hsueh-Wen, Chien Yin-Hsiu, Hwu Wuh-Liang, Souckova Olga, Hnizda Ales, Kmoch Stanislav, Lee Ni-Chung, Zikanova Marie

Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer

基于全外显子组测序的同源重组缺陷检测在卵巢上皮癌中的应用

Chiang, Ying-Cheng; Huang, Hsien-Neng; Kuo, Kuan-Ting; Hwu, Wuh-Liang; Lin, Po-Han

Generation of exogenous kidneys via CRISPR/Cas9 mediated blastocyst complementation targeting Osr1 gene in mice

利用 CRISPR/Cas9 介导的胚泡互补技术靶向小鼠 Osr1 基因,生成外源性肾脏

Yeh, Ting-Yu; Chiu, Ing-Ming; Huang, Yu-Jia; Wu, Shinn-Chih; Hsieh, Chia-Chun; Sung, Hsiang-Hsuan; Hwu, Wuh-Liang; Wang, Gou-Jen; Ju, Jyh-Cherng