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機構 日期 題名 作者
臺大學術典藏 2019 Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population 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 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 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 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 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 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 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Pi-Chuan Fan;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; PI-CHUAN FAN; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.
臺大學術典藏 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses? Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Po-Nien Tsao;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; PO-NIEN TSAO; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
國立成功大學 2019 Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese Yu, M.H.-C.;Tsang, M.H.-Y.;Lai, S.;Ho, M.S.-P.;Tse, D.M.L.;Willis, B.;Kwong, A.K.-Y.;Chou, Y.-Y.;Lin, S.-P.;Quinzii, C.M.;Hwu, W.-L.;Chien, Y.-H.;Kuo, P.-L.;Chan, V.C.-M.;Tsoi, C.;Chong, S.-C.;Rodenburg, Rodenburg R.J.T.;Smeitink, J.;Mak, C.C.-Y.;Yeung, K.-S.;Fung, J.L.-F.;Lam, W.;Hui, J.;Lee, N.-C.;Fung, C.-W.;Chung, B.H.-Y.
國立成功大學 2019 Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses∗ Wu, E.-T.;Hwu, W.-L.;Chien, Y.-H.;Hsu, C.;Chen, T.-F.;Chen, N.-Q.;Chou, H.-C.;Tsao, P.-N.;Fan, P.-C.;Tsai, I.-J.;Lin, S.-P.;Hsieh, W.-S.;Chang, T.-M.;Chen, Chen C.-N.;Lee, C.-H.;Chou, Y.-Y.;Chiu, P.-C.;Tsai, W.-H.;Hsiung, Hsiung H.-C.;Lai, F.;Lee, N.-C.
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 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

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