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Institution	Date	Title	Author
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	2018-09-10T06:15:21Z	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Lin, C.-H. and Hwu, W.-L. and Chiang, S.-C. and Tai, C.-H. and Wu, R.-M.; Ruey-Meei Wu; CHUN-HWEI TAI; Chin-Hsien Lin; WUH-LIANG HWU
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
臺大學術典藏	2018-09-10T06:14:36Z	Valproic acid treatment in six patients with spinal muscular atrophy [5]	Chih-Chao Yang; Tsai, L.-K. and Yang, C.-C. and Hwu, W.-L. and Li, H.; LI-KAI TSAI; WUH-LIANG HWU
臺大學術典藏	2018-09-10T05:46:48Z	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	Lee, M.J. and Su, Y.N. and You, H.L. and Chiou, S.C. and Lin, L.C. and Yang, C.C. and Lee, W.C. and Hwu, W.L. and Hsieh, F.J. and Stephenson, D.A. and Yu, C.L.; MING-JEN LEE; WUH-LIANG HWU; Chih-Chao Yang
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	2018-09-10T05:46:22Z	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	Tsai, L.-K. and Tsai, M.-S. and Lin, T.-B. and Hwu, W.-L. and Li, H.; LI-KAI TSAI; WUH-LIANG HWU
臺大學術典藏	2018-09-10T05:32:41Z	Mapping of psoriasis to 17q terminus	Hwu, W.-L. and Yang, C.-F. and Fann, C.S.J. and Chen, C.-L. and Tsai, T.-F. and Chein, Y.-H. and Chiang, S.-C. and Chen, C.-H. and Hung, S.-I. and Wu, J.-Y. and Chen, Y.-T.; TSEN-FANG TSAI; WUH-LIANG HWU
臺大學術典藏	2018-09-10T05:12:51Z	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Wu, R.-M. and Bounds, R. and Lincoln, S. and Hulihan, M. and Lin, C.-H. and Hwu, W.-L. and Chen, J. and Gwinn-Hardy, K. and Farrer, M.; Ruey-Meei Wu; Chin-Hsien Lin; WUH-LIANG HWU
臺大學術典藏	2018-09-10T05:12:07Z	Adenoviral interneuronal transportation after retrograde gene transfer in mice	Tsai, L.-K. and Tsai, M.-S. and Shyue, S.-K. and Hwu, W.-L. and Li, H.; LI-KAI TSAI; WUH-LIANG HWU
臺大學術典藏	2018-09-10T04:44:10Z	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Wang, C.K. and Wu, Y.R. and Hwu, W.L. and Chen, C.M. and Ro, L.S. and Chen, S.T. and Gwinn-Hardy, K. and Yang, C.C. and Wu, R.M. and Chen, T.F. and Wang, H.C. and Chao, M.C. and Chiu, M.J. and Lu, C.J. and Lee-Chen, G.J.; Ruey-Meei Wu; Ta-Fu Chen; Ming-Jang Chiu; WUH-LIANG HWU; Chih-Chao Yang
臺大學術典藏	2018-09-10T04:38:16Z	Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells	WUH-LIANG HWU;Hao-Sen Chiang;Lee, Y.-M.;Chiou, Y.-W.;Chiang, H.-S.;Fang, S.-W.;Yeh, H.-Y.;Hwu, W.-L.; Hwu, W.-L.; Yeh, H.-Y.; Fang, S.-W.; Chiang, H.-S.; Chiou, Y.-W.; Lee, Y.-M.; Hao-Sen Chiang; WUH-LIANG HWU
臺大學術典藏	2018-09-10T04:05:34Z	Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations	Wu, R.-M. and Shan, D.-E. and Sun, C.-M. and Liu, R.-S. and Hwu, W.-L. and Tai, C.-H. and Hussey, J. and West, A. and Gwinn-Hardy, K. and Hardy, J. and Chen, J. and Farrer, M. and Lincoln, S.; CHUN-HWEI TAI; Ruey-Meei Wu; WUH-LIANG HWU
臺大學術典藏	2018-09-10T03:52:45Z	MRI in a case of adult-onset citrullinemia	Chen, Y.-F. and Huang, Y.-C. and Liu, H.-M. and Hwu, W.-L.; YA-FANG CHEN; WUH-LIANG HWU; HON-MAN LIU
臺大學術典藏	2018-09-10T03:41:12Z	Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]	Wu, C.-H. and Hwu, W.-L. and Wang, J.-K. and Young, C. and Peng, S.S.-F. and Kuo, M.-F.; MENG-FAI KUO; STEVEN SHINN-FORNG PENG; WUH-LIANG HWU; JOU-KOU WANG
臺大學術典藏	2017	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Lee N.-C.;Yang S.-Y.;Chieh J.-J.;Huang P.-T.;Chang L.-M.;Chiu Y.-N.;Huang A.-C.;Chien Y.-H.;Wuh-Liang Hwu;Chiu M.-J.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; WUH-LIANG HWU; Chiu M.-J.
中國醫藥大學	2015-05-17	Molecular Aspects of Mucopolysaccharidosis IVA in Taiwan	林瑋德(Wei-De Lin);周宜卿(I-Ching Chou);(Shuan-Pei Lin);(Pao-Chin Chiu);(Wuh-Liang Hwu);王仲興(Chung-Hsing Wang);蔡輔仁(Fuu-Jen Tsai)*
臺大學術典藏	2015	Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation	Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; WUH-LIANG HWU; Hung K.-L.; Huang C.-C.; Chen C.-H.; Lin S.-J.; Chu S.-Y.; Wang T.-J.; Lu C.-J.; Lee P.-L.
臺大學術典藏	2014	Mutant EXT1 in Taiwanese patients with multiple hereditary exostoses	Lin W.-D.; WUH-LIANG HWU; Wang C.-H.; Tsai F.-J.
臺大學術典藏	2013	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU; Lee N.-C.
高雄醫學大學	2009	高胰島素合併高血氨症候群以高血氨及allopurinol test異常表現的台灣個案報告	林龍昌;胡務亮;楊瑞成 ; Lung-Chang Lin;Wuh-Liang Hwu;Rei-Cheng Yang
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
臺大學術典藏	2005	Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C	Yang, C.-C. and Su, Y.-N. and Chiou, P.-C. and Fietz, M.J. and Yu, C.-L. and Hwu, W.-L. and Lee, M.-J.; MING-JEN LEE; WUH-LIANG HWU; Chih-Chao Yang
臺大學術典藏	2004	Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.	Chen C.P.;Lin S.P.;Tzen C.Y.;Tsai F.J.;Wuh-Liang Hwu;Wang W.; Chen C.P.; Lin S.P.; Tzen C.Y.; Tsai F.J.; WUH-LIANG HWU; Wang W.
臺大學術典藏	1999	Molecular genetic study of Pompe disease in Chinese patients in Taiwan	Ko T.-M.;Wuh-Liang Hwu;Lin Y.-W.;Tseng L.-H.;Hwa H.-L.;Wang T.-R.;Chuang S.-M.; Ko T.-M.; WUH-LIANG HWU; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.-M.
臺大學術典藏	1996	Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.	Tsai L.P.;Sue W.C.;Wuh-Liang Hwu;Lin K.H.;Wang T.R.; Tsai L.P.; Sue W.C.; WUH-LIANG HWU; Lin K.H.; Wang T.R.

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