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Showing items 51-75 of 326 (14 Page(s) Totally)
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| 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
| 國立臺灣大學 |
2016 |
AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMES
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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
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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
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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
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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
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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
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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
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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
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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
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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
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Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; 李妮鍾 |
| 國立臺灣大學 |
2015 |
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
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Chien, Yin-Hsiu; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Shieh, Jeng-Yi; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang; 胡務亮; 許巍鐘; 陳俊安; 李妮鍾; 簡穎秀; 謝正宜 |
| 國立臺灣大學 |
2015 |
Mortality, disability, and intensive care in patients with mitochondrial 3243A > G mutation
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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; 胡務亮; 楊智超; 李佩玲; 范碧娟; 李旺祚; 李妮鍾; 薛涵中; 簡穎秀; 翁妏謹; 蔡宏斌 |
| 國立臺灣大學 |
2015 |
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
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Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2015 |
An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
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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
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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 |
Showing items 51-75 of 326 (14 Page(s) Totally)
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