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机构 日期 题名 作者
國立臺灣大學 2015 An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Hwu, Wuh-Liang; Muramatsu, Shin-Ichi; Lee, Ni-Chung; Chien, Yin-Hsiu; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 李妮鍾; 簡穎秀; 吳瑞美
國立臺灣大學 2015 Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency Lee, Ni-Chung; Muramatsu, Shin-ichi; Chien, Yin-Hsiu; Liu, Wen-Shin; Wang, Wei-Hua; Cheng, Chia-Hao; Hu, Meng-Kai; Chen, Pin-Wen; Tzen, Kai-Yuan; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀
國立臺灣大學 2014 Outcome of early-treated type III Gaucher disease patients Lee, Ni-Chung; Chien, Yin-Hsiu; Wong, Siew-Lee; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; 胡務亮; 彭信逢; 李妮鍾; 簡穎秀; 孫家棟
國立臺灣大學 2014 PROMINENT VACUOLATION OF THE EYELID LEVATOR MUSCLE IN AN EARLY-TREATED CHILD WITH INFANTILE-ONSET POMPE DISEASE Chien, Yin-Hsiu; Lee, Ni-Chung; Tsai, Yueh-Ju; Thurberg, Beth L.; Tsai, Fuu-Jen; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2014 Treatment of Congenital Neurotransmitter Deficiencies by Intracerebral Ventricular Injection of an Adeno-Associated Virus Serotype 9 Vector Lee, Ni-Chung; Chien, Yin-Hsiu; Hu, Min-Hsiu; Liu, Wen-Shin; Chen, Pin-Wen; Wang, Wei-Hua; Tzen, Kai-Yuan; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀
國立臺灣大學 2014 Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism Tsai, I-Jung; Hwu, Wuh-Liang; Huang, Shu-Chien; Lee, Ni-Chung; Wu, En-Ting; Chien, Yin-Hsiu; Tsau, Yong-Kwei; 胡務亮; 吳恩婷; 蔡宜蓉; 黃書健; 李妮鍾; 簡穎秀; 曹永魁
國立臺灣大學 2014 Survival and developmental milestones among Pompe registry patients with classic infantile-onset Pompe disease with different timing of initiation of treatment with enzyme replacement therapy (ERT) Chien, Yin-Hsiu; van der Ploeg, Ans; Jones, Simon A.; Byrne, Barry; Vellodi, Ashok; Leslie, Nancy; Mengel, Eugen; Shankar, Suma; Tanpaiboon, Pranoot; Stockton, David W.; Hennermann, Julia B.; Devecseri, Zsuzsanna; Kempf, Judy; Keutzer, Joan; Kishnani, Priya S.; 簡穎秀
國立臺灣大學 2014 Prominent vacuolation of the eyelid levator muscle in a child with infantile-onset Pompe disease treated since 2.5 months of age Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2014 Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease Er, Tze-Kiong; Chen, Chih-Chieh; Chien, Yin-Hsiu; Liang, Wen-Chen; Kan, Tzu-Min; Jong, Yuh-Jyh; 簡穎秀
國立臺灣大學 2014 Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots Chen, Pin-Wen; Lee, Ni-Chung; Chien, Yin-Hsiu; Wu, Jia-Yun; Wang, Ping-Chun; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀

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