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Showing items 11-35 of 313 (13 Page(s) Totally)
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| 臺大學術典藏 |
2018-09-10T09:40:31Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
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Chien, Yin-Hsiu;Han, Der-Sheng;Hwu, Wuh-Liang;Thurberg, Beth L.;Yang, Wei-Shiung; Chien, Yin-Hsiu;Han, Der-Sheng;Hwu, Wuh-Liang;Thurberg, Beth L.;Yang, Wei-Shiung; Chien, Y.-H. and Han, D.-S. and Hwu, W.-L. and Thurberg, B.L. and Yang, W.-S.; 胡務亮 ;簡穎秀 ;楊偉勛; 胡務亮 ;簡穎秀 ;楊偉勛; Chien, Yin-Hsiu; WEI-SHIUNG YANG; YIN-HSIU CHIEN; Han, Der-Sheng; Han, Der-Sheng; Hwu, Wuh-Liang; Hwu, Wuh-Liang; DER-SHENG HAN; WUH-LIANG HWU; Thurberg, Beth L.; Yang, Wei-Shiung; Yang, Wei-Shiung |
| 臺大學術典藏 |
2018-09-10T09:40:30Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
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Lee, Chee-Seng;Chien, Yin-Hsiu;Peng, Shinn-Forng;Cheng, Pin-Wen;Chang, Lih-Maan;Huang, Ai-Chu;Hwu, Wuh-Liang;Lee, Ni-Chung; Lee, C.-S. and Chien, Y.-H. and Peng, S.-F. and Cheng, P.-W. and Chang, L.-M. and Huang, A.-C. and Hwu, W.-L. and Lee, N.-C.; 胡務亮 ;彭信逢 ;李妮鍾 ;黃愛珠 ;簡穎秀; NI-CHUNG LEE; Lee, Chee-Seng; YIN-HSIU CHIEN; Chien, Yin-Hsiu; WUH-LIANG HWU; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T09:40:21Z |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
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Huang, A. C.; Su, S. C.; Tseng, C. C.; Hwu, W. L.; �^�H�{; Chien, Y.H. and Peng, S.F. and Yang, C.C. and Lee, N.C. and Tsai, L.K. and Huang, A.C. and Su, S.C. and Tseng, C.C. and Hwu, W.L.; Chien, Y. H.;Peng, S. F.;Yang, C. C.;Lee, N. C.;Tsai, L. K.;Huang, A. C.;Su, S. C.;Tseng, C. C.;Hwu, W. L.; 胡務亮 ;楊智超 ;曾嫦嫦 ;彭信逢 ;蔡力凱 ;蘇淑貞 ;李妮鍾 ;黃愛珠 ;簡穎秀; NI-CHUNG LEE; Chien, Y. H.; LI-KAI TSAI; Peng, S. F.; YIN-HSIU CHIEN; Yang, C. C.; Lee, N. C.; WUH-LIANG HWU; Tsai, L. K.; Chih-Chao Yang |
| 臺大學術典藏 |
2018-09-10T09:16:21Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
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Liu, Hsin-Ming;Tsai, Li-Ping;Chien, Yin-Hsiu;Wu, Jia-Feng;Weng, Wen-Chin;Peng, Shinn-Forng;Wu, En-Ting;Huang, Pei-Hsin;Lee, Wang-Tso;Tsai, I-Jun;Hwu, Wuh-Liang;Lee, Ni-Chung; Liu, H.-M. and Tsai, L.-P. and Chien, Y.-H. and Wu, J.-F. and Weng, W.-C. and Peng, S.-F. and Wu, E.-T. and Huang, P.-H. and Lee, W.-T. and Tsai, I.-J. and Hwu, W.-L. and Lee, N.-C.; 胡務亮 ;彭信逢 ;吳恩婷 ;吳嘉峰 ;蔡宜蓉 ;李旺祚 ;李妮鍾 ;簡穎秀 ;黃佩欣 ;翁妏謹; NI-CHUNG LEE; Liu, Hsin-Ming; WANG-TSO LEE; Tsai, Li-Ping; WEN-CHIN WENG; Chien, Yin-Hsiu; JIA-FENG WU; Wu, Jia-Feng; YIN-HSIU CHIEN; Weng, Wen-Chin; Peng, Shinn-Forng; I-JUNG TSAI; Wu, En-Ting; WUH-LIANG HWU; Huang, Pei-Hsin; PEI-HSIN HUANG; EN-TING WU; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T09:14:34Z |
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
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Chien, Yin-Hsiu;Lee, Ni-Chung;Huang, Pei-Hsin;Lee, Wang-Tso;Thurberg, Beth L.;Hwu, Wuh-Liang; Chien, Y.-H. and Lee, N.-C. and Huang, P.-H. and Lee, W.-T. and Thurberg, B.L. and Hwu, W.-L.; 胡務亮 ;李妮鍾 ;簡穎秀 ;黃佩欣; NI-CHUNG LEE; Chien, Yin-Hsiu; WANG-TSO LEE; Lee, Ni-Chung; YIN-HSIU CHIEN; Huang, Pei-Hsin; WUH-LIANG HWU; Lee, Wang-Tso; Thurberg, Beth L.; PEI-HSIN HUANG; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T09:14:30Z |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
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Yeang, C.-H. and Ma, G.-C. and Shih, J.-C. and Yang, Y.-S. and Chen, C.-P. and Chang, S.-P. and Wu, S.-H. and Liu, C.-S. and Kuo, S.-J. and Chou, H.-C. and Hwu, W.-L. and Cameron, A.D. and Ginsberg, N.A. and Lin, Y.-S. and Chen, M.; Yeang, Chen-Hsiang;Ma, Gwo-Chin;Shih, Jin-Chung;Yang, Yu-Shih;Chen, Chih-Ping;Chang, Shun-Ping;Wu, Sheng-Hai;Liu, Chin-San;Kuo, Shou-Jen;Chou, Hung-Chieh;Hwu, Wuh-Liang;Cameron, Alan D.;Ginsberg, Norman A.;Lin, Yi-Shing;Chen, Ming; 楊友仕 ;施景中 ;胡務亮 ;周弘傑 ;陳明; HUNG-CHIEH CHOU; Yeang, Chen-Hsiang; Ma, Gwo-Chin; MING CHEN; YU-SHIH YANG; Shih, Jin-Chung; JIN-CHUNG SHIH; Yang, Yu-Shih; WUH-LIANG HWU; Chen, Chih-Ping; Chang, Shun-Ping; Wu, Sheng-Hai; Liu, Chin-San; Kuo, Shou-Jen; Chou, Hung-Chieh; Hwu, Wuh-Liang; Cameron, Alan D.; Ginsberg, Norman A.; Lin, Yi-Shing; Chen, Ming |
| 臺大學術典藏 |
2018-09-10T08:22:12Z |
遺傳檢測倫理議題及遺傳諮詢倫理準則
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蔡甫昌(Daniel Fu-Chang Tsai);楊尚儒(Shang-Ju Yang);張至寧Chih-Ning Chang);胡務亮(Wuh-Liang Hwu);楊智超(Chih-Chao Yang); 蔡甫昌;楊尚儒;張至寧;胡務亮;楊智超; TSAI, FU-CHANG;YANG, SHANG-JU;CHANG, CHIH-NING;HWU, WUH-LIANG;YANG, CHIH-CHAO; 蔡甫昌; WUH-LIANG HWU; 楊尚儒; 張至寧; 胡務亮; 楊智超 |
| 臺大學術典藏 |
2018-09-10T07:43:55Z |
Clinical features of AADC-deficient children and therapeutic prospects
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Wuh-Liang Hwu and Yin-Hsiu Chien and Ni-Chung Lee and Wang-Tso Lee and Ruey-Meei Wu; 胡務亮;簡穎秀;李妮鍾;李旺祚;吳瑞美; HWU, WUH-LIANG;CHIEN, YIN-HSIU;LEE, NI-CHUNG;LEE, WANG-TSO;WU, RUEY-MEEI; YIN-HSIU CHIEN; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LEE, WANG-TSO; WU, RUEY-MEEI |
| 臺大學術典藏 |
2018-09-10T07:04:16Z |
Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease
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YUNG-MING JENG; Hui-Ling Chen; HUEY-LING CHEN; WUH-LIANG HWU; CHEN, HUEY-LING; CHEN, HUI-LING; HWU, WUH-LIANG; JENG, YUNG-MING; CHANG, MEI-HWEI; Chen, H.-L. and Wang, R. and Chen, H.-L. and Hwu, W.-L. and Jeng, Y.-M. and Chang, M.-H. and Ling, V.; 陳慧玲;陳惠玲;胡務亮;鄭永銘;張美惠; CHEN, HUEY-LING;CHEN, HUI-LING;HWU, WUH-LIANG;JENG, YUNG-MING;CHANG, MEI-HWEI; MEI-HWEI CHANG |
| 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 |
| 臺大學術典藏 |
2018-09-10T03:32:11Z |
一般兒科訓練
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胡務亮;吳美環; MEI-HWAN WU |
| 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 |
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 |
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