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"ni chung lee"的相关文件
显示项目 211-226 / 226 (共5页)
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| 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 |
2018-09-10T09:14:53Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
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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 |
2018-09-10T09:14:42Z |
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia
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Chang, K.-C. and Lin, P.-H. and Su, Y.-N. and Peng, S.S.-F. and Lee, N.-C. and Chou, H.-C. and Chen, C.-Y. and Hsieh, W.-S. and Tsao, P.-N.; Chang, Kai-Chi;Lin, Po-Han;Su, Yi-Ning;Peng, Steven Shinn-Forng;Lee, Ni-Chung;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien; 周弘傑 ;彭信逢 ;曹伯年 ;謝武勳 ;李妮鍾 ;蘇怡寧 ;林柏翰 ;陳倩儀; WU-SHIUN HSIEH; Chang, Kai-Chi; Lin, Po-Han; HUNG-CHIEH CHOU; NI-CHUNG LEE; Su, Yi-Ning; Peng, Steven Shinn-Forng; PO-HAN LIN; Lee, Ni-Chung; STEVEN SHINN-FORNG PENG; PO-NIEN TSAO; Chou, Hung-Chieh; Chen, Chien-Yi; CHIEN-YI CHEN; Hsieh, Wu-Shiun; Tsao, Po-Nien |
| 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 |
2018-09-10T06:50:06Z |
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 |
2018-09-10T06:49:59Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
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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 |
2018-09-10T06:14:36Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
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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 |
| 臺大學術典藏 |
2018-09-10T05:46:37Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
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Lee, N.-C. and Chien, Y.-H. and Kobayashi, K. and Saheki, T. and Chen, H.-L. and Chiu, P.-C. and Ni, Y.-H. and Chang, M.-H. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWEI CHANG; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU |
| 臺大學術典藏 |
2018 |
Functional independence of Taiwanese children with Prader–Willi syndrome
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Lee C.-L.;Lin H.-Y.;Tsai L.-P.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Chien Y.-H.;Ni-Chung Lee;Niu D.-M.;Chao M.-C.;Tsai F.-J.;Chou Y.-Y.;Chuang C.-K.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Tsai L.-P.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; Chien Y.-H.; NI-CHUNG LEE; Niu D.-M.; Chao M.-C.; Tsai F.-J.; Chou Y.-Y.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2016 |
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene
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NI-CHUNG LEE; Lee Y.-M.; Chen P.-W.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2014 |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
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Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2013 |
Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)
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Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P. |
| 中國醫藥大學 |
2011 |
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia.
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(Kai-Chi Chang); 林柏翰(Po-Han Lin); (Yi-Ning Su); (Steven Shinn-Forng Peng); (Ni-Chung Lee); (Hung-Chieh Chou); (Chien-Yi Chen); (Wu-Shiun Hsieh); (Po-Nien Tsao)* |
| 臺大學術典藏 |
2009 |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
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Chien, Y.-H. and Lee, N.-C. and Thurberg, B.L. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Huang, A.-C. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWAN WU; YIN-HSIU CHIEN; WUH-LIANG HWU; PEI-HSIN HUANG |
| 臺大學術典藏 |
2008 |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
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Ni-Chung Lee;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L. |
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