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Showing items 231-280 of 345 (7 Page(s) Totally)
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| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
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NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
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NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
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Llerena, Juan;YIN-HSIU CHIEN;Kishnani, Priya S.;Araujo, Roberto;Toscano, Antonio;Clemens, Paula R.;Maruti, Sonia S.;Periquet, Magali;Leslie, Nancy;Reuser, Arnold J.J.;Kimonis, Virginia E.;Sanson, Bernd Jan;Abbott, Mary Alice;van der Ploeg, Ans T.; van der Ploeg, Ans T.; Abbott, Mary Alice; Sanson, Bernd Jan; Kimonis, Virginia E.; Reuser, Arnold J.J.; Leslie, Nancy; Periquet, Magali; Maruti, Sonia S.; Clemens, Paula R.; Toscano, Antonio; Araujo, Roberto; Kishnani, Priya S.; YIN-HSIU CHIEN; Llerena, Juan |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
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Llerena, Juan;YIN-HSIU CHIEN;Kishnani, Priya S.;Araujo, Roberto;Toscano, Antonio;Clemens, Paula R.;Maruti, Sonia S.;Periquet, Magali;Leslie, Nancy;Reuser, Arnold J.J.;Kimonis, Virginia E.;Sanson, Bernd Jan;Abbott, Mary Alice;van der Ploeg, Ans T.; van der Ploeg, Ans T.; Abbott, Mary Alice; Sanson, Bernd Jan; Kimonis, Virginia E.; Reuser, Arnold J.J.; Leslie, Nancy; Periquet, Magali; Maruti, Sonia S.; Clemens, Paula R.; Toscano, Antonio; Araujo, Roberto; Kishnani, Priya S.; YIN-HSIU CHIEN; Llerena, Juan |
| 臺大學術典藏 |
2019 |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
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Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
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Lee N.-C.; Chen S.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2019 |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Niu D.-M.; Ho M.-C.; Hu R.-H.; Liu C.-S.; Lin S.-P.; Lee N.-C.; Hwu W.-L.; Yang C.-F.; Lin N.-C.; Chiang C.-C.; Chu T.-H.; YIN-HSIU CHIEN; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J. |
| 臺大學術典藏 |
2019 |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
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Yu H.-H.; Hu T.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang Y.-H.; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2019 |
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
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Muntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K. |
| 臺大學術典藏 |
2019 |
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
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de Meirleir L.; Matsumoto S.; De Laet C.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Cazorla A.G.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Additional individual contributors from E-IMD; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I. |
| 臺大學術典藏 |
2019 |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
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Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN; Lee N.-C. |
| 臺大學術典藏 |
2018-09-10T18:02:45Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
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Yin-Ting Zeng and Wuh-Liang Hwu and Pao-Chuan Torng and Ni-Chung Lee and Jeng-Yi Shieh and Lu Lu and Yin-Hsiu Chien; NI-CHUNG LEE; JENG-YI SHIEH; LU LU; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T15:37:01Z |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme
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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; Lin, H.-Y. and Chuang, C.-K. and Huang, Y.-H. and Tu, R.-Y. and Lin, F.-J. and Lin, S.J. and Chiu, P.C. and Niu, D.-M. and Tsai, F.-J. and Hwu, W.-L. and Chien, Y.-H. and Lin, J.-L. and Chou, Y.-Y. and Tsai, W.-H. and Chang, T.-M. and Lin, S.-P.; 胡務亮;簡穎秀; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Chuang, Chih-Kuang; WUH-LIANG HWU; 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 |
| 臺大學術典藏 |
2018-09-10T15:34:03Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
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YIN-HSIU CHIEN; Tsai, Fuu-Jen; WUH-LIANG HWU; Tsai, Wen-Hui; Chien, Yin-Hsiu; Lee, Ni-Chung; Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; STEVEN SHINN-FORNG PENG; Peng, S.S.-F. and Hwu, W.-L. and Lee, N.-C. and Tsai, F.-J. and Tsai, W.-H. and Chien, Y.-H.; 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; NI-CHUNG LEE |
| 臺大學術典藏 |
2018-09-10T15:26:42Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
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Wu, Chao-Szu; Lee, Wang-Tso; Lee, Wang-Tso; WEN-CHIN WENG; YIN-HSIU CHIEN; Weng, Wen-Chin; Weng, Wen-Chin; Fan, Pi-Chuan; WUH-LIANG HWU; Fan, Pi-Chuan; Chien, Yin-Hsiu; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hwu, Wuh-Liang; Hung, Kun-Long; Hung, Kun-Long; Huang, Chao-Ching; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Chu, Shao-Yin; Wang, Tzu-Jou; Wang, Tzu-Jou; Lu, Chien-Jung; Lu, Chien-Jung; Lee, Pei-Lin; Lee, Pei-Lin; Wu, Chao-Szu; PEI-LIN LEE; Chai, Huei-Ming; Yang, Chih-Chao; Hsiue, H.-C. and Lee, N.-C. and Tsai, H.-B. and Yang, C.-C. and Wu, C.-S. and Lee, W.-T. and Weng, W.-C. and Fan, P.-C. and Chien, Y.-H. and Hwu, W.-L. and Hung, K.-L. and Huang, C.-C. and Chen, C.-H. and Lin, S.-J. and Chu, S.-Y. and Wang, T.-J. and Lu, C.-J. and Lee, P.-L.; 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; 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; Hsiue, Han-Chung; NI-CHUNG LEE; Hsiue, Han-Chung; Lee, Ni-Chung; PI-CHUAN FAN; Lee, Ni-Chung; Tsai, Hung-Bin; WANG-TSO LEE; Tsai, Hung-Bin; HUNG-BIN TSAI; Yang, Chih-Chao |
| 臺大學術典藏 |
2018-09-10T15:26:41Z |
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; Yin-Hsiu Chien and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Jeng-Yi Shieh and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Wuh-Liang Hwu; 胡務亮;許巍鐘;陳俊安;李妮鍾;簡穎秀;謝正宜; CHUN-AN CHEN; Chien, Yin-Hsiu; Lee, Ni-Chung; NI-CHUNG LEE; Chen, Chun-An; JENG-YI SHIEH; TZU-HSUN TSAI; Tsai, Fuu-Jen; YIN-HSIU CHIEN; Tsai, Wen-Hui; Shieh, Jeng-Yi; WUH-LIANG HWU; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T15:02:31Z |
Outcome of early-treated type III Gaucher disease patients
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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; Lee, N.-C. and Chien, Y.-H. and Wong, S.-L. and Sheen, J.-M. and Tsai, F.-J. and Peng, S.-F. and Leung, J.H. and Chao, M.-C. and Shun, C.-T. and Hwu, W.-L.; 胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟; Lee, Ni-Chung; NI-CHUNG LEE; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Wong, Siew-Lee; WUH-LIANG HWU; Chang, An-Chen; CHIA-TUNG SHUN; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; ?^?H?{ |
| 臺大學術典藏 |
2018-09-10T14:50:28Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
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Lin, Chia-Hsuan;Chien, Yin-Hsiu;Peng, Shinn-Forng;Tsai, Wen-Yu;Tung, Yi-Ching;Lee, Cheng-Ting;Chien, Chun-Ching;Hwu, Wuh-Liang;Lee, Ni-Chung; Lin, C.-H. and Chien, Y.-H. and Peng, S.-F. and Tsai, W.-Y. and Tung, Y.-C. and Lee, C.-T. and Chien, C.-C. and Hwu, W.-L. and Lee, N.-C.; 蔡文友;胡務亮;童怡靖;彭信逢;李正婷;李妮鍾;簡穎秀; NI-CHUNG LEE; Lin, Chia-Hsuan; YI-CHING TUNG; Chien, Yin-Hsiu; CHENG-TING LEE; Peng, Shinn-Forng; YIN-HSIU CHIEN; Tsai, Wen-Yu; Tung, Yi-Ching; WUH-LIANG HWU; Lee, Cheng-Ting; WEN-YU TSAI; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T14:50:14Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
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胡務亮;吳恩婷;蔡宜蓉;黃書健;李妮鍾;簡穎秀;曹永魁; Tsai, I.-J. and Hwu, W.-L. and Huang, S.-C. and Lee, N.-C. and Wu, E.-T. and Chien, Y.-H. and Tsau, Y.-K.; Tsai, I-Jung;Hwu, Wuh-Liang;Huang, Shu-Chien;Lee, Ni-Chung;Wu, En-Ting;Chien, Yin-Hsiu;Tsau, Yong-Kwei; Tsai, I-Jung; NI-CHUNG LEE; Hwu, Wuh-Liang; YONG-KWEI TSAU; Huang, Shu-Chien; I-JUNG TSAI; YIN-HSIU CHIEN; Lee, Ni-Chung; SHU-CHIEN HUANG; Wu, En-Ting; Chien, Yin-Hsiu; WUH-LIANG HWU; Tsau, Yong-Kwei; EN-TING WU |
| 臺大學術典藏 |
2018-09-10T09:51:20Z |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
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Yin-Hsiu Chien and Wuh-Liang Hwu and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Jeng-Yi Shieh; Chien, Yin-Hsiu;Hwu, Wuh-Liang;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Shieh, Jeng-Yi; 胡務亮 ;蔡紫薰 ;許巍鐘 ;陳俊安 ;李妮鍾 ;簡穎秀 ;謝正宜; Chien, Yin-Hsiu; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi |
| 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 |
2018-09-10T09:25:36Z |
Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians
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Wei-Hsin Chen,; Han-Ping Chen,; Yi-Ju Tseng,; Kai-Ping Hsu,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Wuh-Liang Hwu,; Feipei Lai,; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T09:25:36Z |
Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians
|
Wei-Hsin Chen,; Han-Ping Chen,; Yi-Ju Tseng,; Kai-Ping Hsu,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Wuh-Liang Hwu,; Feipei Lai,; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T09:25:35Z |
Integrating Human Genome Database into Electronic Health Record with Sequence Alignment and Compression Mechanism
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Wei-Hsin Chen,; Yu-Wen Lu,; Feipei Lai,; Yin-Hsiu Chien,; Wuh-Liang Hwu,; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T09:25:35Z |
Integrating Human Genome Database into Electronic Health Record with Sequence Alignment and Compression Mechanism
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Wei-Hsin Chen,; Yu-Wen Lu,; Feipei Lai,; Yin-Hsiu Chien,; Wuh-Liang Hwu,; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 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
|
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 |
2018-09-10T09:14:53Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu, W.-L. and Muramatsu, S.-I. and Tseng, S.-H. and Tzen, K.-Y. and Lee, N.-C. and Chien, Y.-H. and Snyder, R.O. and Byrne, B.J. and Tai, C.-H. and Wu, R.-M.; Ruey-Meei Wu; CHUN-HWEI TAI; NI-CHUNG LEE; KAI-YUAN TZEN; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 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
|
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 |
2018-09-10T09:13:24Z |
Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
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Huang, H.-P. and Chen, P.-H. and Hwu, W.-L. and Chuang, C.-Y. and Chien, Y.-H. and Stone, L. and Chien, C.-L. and Li, L.-T. and Chiang, S.-C. and Chen, H.-F. and Ho, H.-N. and Chen, C.-H. and Kuo, H.-C.; HSIANG-PO HUANG; HONG-NERNG HO; CHUNG-LIANG CHIEN; YIN-HSIU CHIEN; HSIN-FU CHEN |
| 臺大學術典藏 |
2018-09-10T08:30:46Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang, H.-P. and Chen, P.-H. and Hwu, W.-L. and Chuang, C.-Y. and Chien, Y.-H. and Stone, L. and Chien, C.-L. and Li, L.-T. and Chiang, S.-C. and Chen, H.-F. and Ho, H.-N. and Chen, C.-H. and Kuo, H.-C.; HSIANG-PO HUANG; HONG-NERNG HO; CHUNG-LIANG CHIEN; YIN-HSIU CHIEN; WUH-LIANG HWU; HSIN-FU CHEN |
| 臺大學術典藏 |
2018-09-10T08:30:46Z |
SLC25A13 gene mutations in Taiwanese patients with non-viralhepatocellular carcinoma
|
Chang, K.-W. and Chen, H.-L. and Chien, Y.-H. and Chen, T.-C. and Yeh, C.-T.; 張魁文;陳慧玲;簡穎秀;陳澤卿; CHANG, KUEI-WEN;CHEN, HUEY-LING;CHIEN, YIN-HSIU;CHEN, TSE-CHING; HUEY-LING CHEN; YIN-HSIU CHIEN; CHANG, KUEI-WEN; CHEN, HUEY-LING; CHIEN, YIN-HSIU; CHEN, TSE-CHING |
| 臺大學術典藏 |
2018-09-10T08:30:45Z |
A reliable password-based user authentication scheme for web-based human genome database system
|
FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU; Chen, W.-H.; Wu, Z.-Y.; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T08:30:45Z |
A reliable password-based user authentication scheme for web-based human genome database system
|
FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU; Chen, W.-H.; Wu, Z.-Y.; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T08:30:45Z |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng, S.S.-F. and Chien, Y.-H. and Hwu, W.-L. and Liu, H.-M. and Tseng, I.W.-Y.; STEVEN SHINN-FORNG PENG; YIN-HSIU CHIEN; HON-MAN LIU; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T07:43:55Z |
Clinical features of AADC-deficient children and therapeutic prospects
|
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 |
2018-09-10T07:43:16Z |
Design of Genome Database System with the Sequence Alignment and Data Compression Mechanism
|
Wei-Hsin Chen,;Yu-Wen Lu,;Chia-Ping Shen,;Kai-Ping Hsu,;Fei-Pei Lai,;Yin-Hsiu Chien,; Wei-Hsin Chen,; Yu-Wen Lu,; Chia-Ping Shen,; Kai-Ping Hsu,; Fei-Pei Lai,; Yin-Hsiu Chien,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:16Z |
Design of Genome Database System with the Sequence Alignment and Data Compression Mechanism
|
Wei-Hsin Chen,;Yu-Wen Lu,;Chia-Ping Shen,;Kai-Ping Hsu,;Fei-Pei Lai,;Yin-Hsiu Chien,; Wei-Hsin Chen,; Yu-Wen Lu,; Chia-Ping Shen,; Kai-Ping Hsu,; Fei-Pei Lai,; Yin-Hsiu Chien,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System
|
Sung-Huai Hsieh,;Po-Hsun Cheng,;Sheau-Ling Hsieh,;Po-Hao Chen,;Yung-Ching Weng,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Po-Hsun Cheng,; Sheau-Ling Hsieh,; Po-Hao Chen,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System
|
Sung-Huai Hsieh,;Po-Hsun Cheng,;Sheau-Ling Hsieh,;Po-Hao Chen,;Yung-Ching Weng,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Po-Hsun Cheng,; Sheau-Ling Hsieh,; Po-Hao Chen,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
Newborn Screening System Based on Adaptive Feature Selection and Support Vector Machines
|
Hsieh, Sung-Huai; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei; Hsieh, Sung-Huai; FEI-PEI LAI; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei |
| 臺大學術典藏 |
2018-09-10T07:13:30Z |
Myopathy in Gaucher disease
|
Chih-Chao Yang; Tsai, L.-K. and Chien, Y.-H. and Yang, C.-C. and Hwu, W.-L.; LI-KAI TSAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
Web Services Based Newborn Screening System with Support Vector Machines
|
Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Po-Hao Chen,; Hsing-Yu Chang,; Feipei Lai,; Wu-Liang Hwu,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture
|
Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture
|
Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 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 |
| 臺大學術典藏 |
2018-09-10T06:49:59Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien, YH;Chiang, SC;Zhang, XK;Keutzer, J;Lee, NC;Huang, AC;Chen, CA;Wu, MH;Huang, PH;Tsai, FJ;Chen, YT;Hwu, WL; Chien, Y.-H. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Lee, N.-C. and Huang, A.-C. and Chen, C.-A. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; CHUN-AN CHEN; Chien, YH; Chiang, SC; NI-CHUNG LEE; MEI-HWAN WU; Zhang, XK; YIN-HSIU CHIEN; Keutzer, J; WUH-LIANG HWU; Lee, NC; Huang, AC; PEI-HSIN HUANG; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL |
| 臺大學術典藏 |
2018-09-10T06:14:51Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
Wang, C.-C. and Chen, Y.-W. and Wu, E.-T. and Chien, Y.-H. and Hwu, W.-L. and Ko, W.-J. and Huang, S.-C.; CHING-CHIA WANG; YIN-HSIU CHIEN; SHU-CHIEN HUANG; WUH-LIANG HWU; EN-TING WU |
| 臺大學術典藏 |
2018-09-10T06:14:36Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
SHYH-JYE CHEN; YIN-HSIU CHIEN; WUH-LIANG HWU; Chien, Y.H. and Lee, N.C. and Tsai, L.K. and Huang, A.C. and Peng, S.F. and Chen, S.J. and Hwu, W.L.; NI-CHUNG LEE; LI-KAI TSAI |
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