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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
臺大學術典藏 2018-09-10T06:50:06Z Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency 陳弘文;陳慧玲;倪衍玄;李妮鍾;簡穎秀;胡務亮;黃淵德;邱寶琴;張美惠; Chen, H.-W. and Chen, H.-L. and Ni, Y.-H. and Lee, N.-C. and Chien, Y.-H. and Hwu, W.-L. and Huang, Y.-T. and Chiu, P.-C. and Chang, M.-H.; CHEN, HUNG-WEN;CHEN, HUEY-LING;NI, YEN- HSUAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU;HWU, WUH-LIANG;HUANG, YUAN-TE;CHIU, PAO-CHIN;CHANG, MEI-HWEI; NI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI
國立交通大學 2018-08-21T05:53:02Z Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening Chien, Yin-Hsiu; Chiang, Shu-Chuan; Weng, Wen-Chin; Lee, Ni-Chung; Lin, Ching-Jie; Hsieh, Wu-Shiun; Lee, Wang-Tso; Jong, Yuh-Jyh; Ko, Tsang-Ming; Hwu, Wuh-Liang
國立臺北護理健康大學 2017-05 Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease Zeng, Yin-Ting;Hwu, Wuh-Liang;Torng, Pao-Chuan;Lee, Ni-Chung;Shieh, Jeng-Yi;Lu, Lu;Chien, Yin-Hsiu
國立交通大學 2017-04-21T06:49:59Z Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians Chen, Wei-Hsin; Chen, Han-Ping; Tseng, Yi-Ju; Hsu, Kai-Ping; Hsieh, Sheau-Ling; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei
國立成功大學 2016-11-10 Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency Cheng, Wei-Chieh; Wang, Jen-Hon; Li, Huang-Yi; Lu, Sheng-Jhih; Hu, Jia-Ming; Yun, Wen-Yi; Chiu, Cheng-Hsin; Yang, Wen-Bin; Chien, Yin-Hsiu; Hwu, Wuh-Liang
國立成功大學 2016-06-27 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
國立成功大學 2016-06 Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; Chien, Yin-Hsiu; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; Hwu, Wuh-Liang; Ke, Yu-Yuan; Lin, Shuan-Pei
國立臺灣大學 2016 Advances in newborn screening for Pompe disease and resulting clinical outcomes Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort study Chien, Yin-Hsiu; Hwu, Wuh-Liang; Peng, Steven Shinn-Forng; 胡務亮; 彭信逢; 簡穎秀
國立臺灣大學 2016 Long-term outcome for Down syndrome patients with hematopoietic disorders Li, Meng-Ju; Lee, Ni-Chung; Yang, Yung-Li; Yen, Hsiu-Ju; Chang, Hsiu-Hao; Chien, Yin-Hsiu; Lu, Meng-Yao; Jou, Shiann-Tarng; Lin, Kai-Hsin; Hwu, Wuh-Liang; Lin, Dong-Tsamn; 李孟儒; 林東燦; 胡務亮; 周獻堂; 李妮鍾; 簡穎秀; 盧孟佑; 張修豪; 林凱信; 楊永立

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