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

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

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

Developmental change of brain volume in Rett syndrome in Taiwan

台湾雷特综合征患者脑容量发育变化

Jan, Tz-Yun; Wong, Lee-Chin; Hsu, Chia-Jui; Huang, Chien-Feng Judith; Peng, Steven Shinn-Forng; Tseng, Wen-Yih Isaac; Lee, Wang-Tso

The microstructural change of the brain and its clinical severity association in pediatric Tourette syndrome patients

儿童图雷特综合征患者脑部微观结构变化及其临床严重程度的相关性

Hsu, Chia-Jui; Wong, Lee Chin; Wang, Hsin-Pei; Chung, Yi-Chun; Kao, Te-Wei; Weng, Chen-Hsiang; Wu, Wen-Chau; Peng, Shinn-Forng; Tseng, Wen-Yih Isaac; Lee, Wang-Tso

Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3

依利格鲁司他联合酶替代疗法治疗戈谢病3型患者淋巴结肿大的安全性和有效性

Lee, Ni-Chung; Chien, Yin-Hsiu; Wang, Chung-Hsing; Wong, Siew-Lee; Peng, Steven Shinn-Forng; Tsai, Fuu-Jen; Hwu, Wuh-Liang

Diagnostic Performance of Transient Elastography in Biliary Atresia Among Infants With Cholestasis

瞬时弹性成像在胆汁淤积婴儿胆道闭锁诊断中的应用性能

Boo, Yin-Ann; Chang, Mei-Hwei; Jeng, Yung-Ming; Peng, Shinn-Forng; Hsu, Wen-Ming; Lin, Wen-Hsi; Chen, Huey-Ling; Ni, Yen-Hsuan; Hsu, Hong-Yuan; Wu, Jia-Feng

Correlation of dystonia severity and iron accumulation in Rett syndrome

雷特综合征中肌张力障碍严重程度与铁沉积的相关性

Jan, Tz-Yun; Wong, Lee-Chin; Yang, Ming-Tao; Huang, Chien-Feng Judith; Hsu, Chia-Jui; Peng, Steven Shinn-Forng; Tseng, Wen-Yih Isaac; Lee, Wang-Tso

Growing pigs developed different types of diabetes induced by streptozotocin depending on their transcription factor 7-like 2 gene polymorphisms

根据转录因子7样2基因多态性的不同,生长猪会患上链脲佐菌素诱导的不同类型的糖尿病。

Tu, Ching-Fu; Hsu, Chi-Yun; Lee, Meng-Hwan; Jiang, Bo-Hui; Guo, Shyh-Forng; Lin, Chai-Ching; Yang, Tien-Shuh

Microstructural changes of brain in patients with aromatic L-amino acid decarboxylase deficiency

芳香族L-氨基酸脱羧酶缺乏症患者脑组织的微观结构变化

Lee, Wang-Tso; Lin, Jui-Hsiang; Weng, Wen-Chin; Peng, Steven Shinn-Forng

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

新生儿期接受治疗的婴儿型庞贝病患者出现缓慢进展性肌病:一项肌肉磁共振成像研究

Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; Lee, Ni-Chung; Tsai, Fuu-Jen; Tsai, Wen-Hui; Chien, Yin-Hsiu