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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
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 2018-09-10T06:14:36Z 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
臺大學術典藏 2018-09-10T05:46:37Z Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency 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 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 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 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) 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. (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 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

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