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机构 日期 题名 作者
國立臺灣大學 2016 AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMES Kanungo, Shibani; Hwu, Wuh-Liang; 胡務亮
國立臺灣大學 2016 Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮
國立臺灣大學 2016 Integrated care for Down syndrome Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; Lee, Ni-Chung; Tsai, Fuu-Jen; Tsai, Wen-Hui; Chien, Yin-Hsiu; 胡務亮; 彭信逢; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei; 胡務亮; 簡穎秀
國立臺灣大學 2016 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency Chien, Yin-Hsiu; Chen, Pin-Wen; Lee, Ni-Chung; Hsieh, Wu-Shiun; Chiu, Pao-Chin; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Lin, Shuan-Pei; Chu, Shao-Yin; Jong, Yuh-Jyh; Chao, Mei-Chyn; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene Lee, Ni-Chung; Lee, Yu-May; Chen, Pin-Wen; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾
國立成功大學 2015-09 Mortality, disability, and intensive care in patients with mitochondrial 3243A > G mutation Hsiue, Han-Chung; Lee, Ni-Chung; Tsai, Hung-Bin; Yang, Chih-Chao; Wu, Chao-Szu; Lee, Wang-Tso; Weng, Wen-Chin; Fan, Pi-Chuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hung, Kun-Long; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Wang, Tzu-Jou; Lu, Chien-Jung; Lee, Pei-Lin
國立臺灣大學 2015 Incidence of severe combined immunodeficiency through newborn screening in a Chinese population Chien, Yin-Hsiu; Chian, Shu-Chuan; Chang, Kai-Ling; Yu, Hsin-Hui; Lee, Wen-I; Tsai, Li-Ping; Hsu, Li-Wen; Hu, Min-Huei; Hwu, Wuh-Liang; 胡務亮; 簡穎秀; 俞欣慧; 徐儷文
國立臺灣大學 2015 Congenital Malformations in Newborns-A Challenge Unmet for Decades Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; 李妮鍾

显示项目 61-70 / 326 (共33页)
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