| 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. |
