| 臺大學術典藏 |
2018-09-10T06:06:32Z |
Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
|
Tsai, L.P.;Sue, W.C.;Hwu, W.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN |
| 臺大學術典藏 |
2018-09-10T05:47:26Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai, C.-W.;Yang, C.-C.;Chen, H.-L.;Hwu, W.-L.;Wu, M.-Z.;Liu, K.-L.;Wu, M.-S.; Chih-Chao Yang |
| 臺大學術典藏 |
2018-09-10T05:46:28Z |
Camptomelic dysplasia: report of one case.
|
Tsao, P.N.;Teng, R.J.;Hwu, W.L.;Tsou Yau, K.I.;Wang, T.R.; PO-NIEN TSAO |
| 臺大學術典藏 |
2018-09-10T05:32:20Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang, H.-P.;Chien, Y.-H.;Huang, L.-M.;Ni, Y.-H.;Chang, M.-H.;Ho, M.-C.;Lee, P.-H.;Hwu, W.-L.; LI-MIN HUANG |
| 臺大學術典藏 |
2018-09-10T05:03:01Z |
Trisomy 18 in monozygotic twins with discordant phenotypes
|
Lee, J.-T.;Chou, H.-C.;Tsao, P.-N.;Hsieh, W.-S.;Hwu, W.-L.; WU-SHIUN HSIEH |
| 臺大學術典藏 |
2018-09-10T05:02:49Z |
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan
|
Chien, Y.-H.;Hwu, W.-L.;Ariga, T.;Chang, K.-W.;Yang, Y.-H.;Lin, K.-H.;Chiang, B.-L.; KAI-HSIN LIN |
| 臺大學術典藏 |
2018-09-10T04:43:58Z |
Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review
|
Chu, S.-Y.;Tsai, W.-Y.;Chien, Y.-H.;Fang, J.-S.;Ku, C.-W.;Chang, P.-Y.;Hwu, W.-L.; WEN-YU TSAI |
| 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 |
2018-09-10T04:25:26Z |
Neonatal screening and monitoring system in Taiwan.
|
Hwu, W.L.;Huang, A.C.;Chen, J.S.;Hsiao, K.J.;Tsai, W.Y.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T04:17:49Z |
DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.
|
Hwu, W.L.;Chen, R.L.;Lin, K.H.;Wang, T.R.; KAI-HSIN LIN |
| 臺大學術典藏 |
2018-09-10T04:05:37Z |
Neonatal screening for congenital adrenal hyperplasia in taiwan: A pilot study
|
Chu, S.-Y.;Tsai, W.-Y.;Chen, L.-H.;Wei, M.-L.;Chien, Y.-H.;Hwu, W.-L.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T03:41:51Z |
Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.
|
Hwu, W.L.;Tsai, W.Y.;Lee, J.S.;Wang, P.J.;Wang, T.R.; WEN-YU TSAI |
| 臺大學術典藏 |
2018-09-10T03:24:10Z |
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation
|
Hwu, W.-L.;Suzuki, Y.;Yang, X.;Li, X.;Chou, S.-P.;Narisawa, K.;Tsai, W.-Y.; WEN-YU TSAI |
| 臺大學術典藏 |
2018 |
Biparental inheritance of mitochondrial DNA in humans
|
Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; PI-CHUAN FAN; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2018 |
Biparental inheritance of mitochondrial DNA in humans
|
YIN-HSIU CHIEN; Chen S.M.; Brown J.; Dell S.; Li Z.; Wang X.; Gui B.; Slone J.; Lee N.-C.; Zhang J.; Luo S.; Valencia C.A.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2018 |
Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center
|
Lin C.-J.; YIN-HSIU CHIEN; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; Hwu W.-L.; Wu C.-J. |
| 臺大學術典藏 |
2018 |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)
|
Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2018 |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
|
Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2018 |
SHOX deficiency in short Taiwanese children: A single-center experience
|
Tung Y.-C.;Lee N.-C.;Hwu W.-L.;Shih-Yao Liu;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; Hwu W.-L.; SHIH-YAO LIU; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2017 |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; LU LU; Chien Y.-H. |
| 臺大學術典藏 |
2017 |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
|
Chien Y.-H.;Lee N.-C.;Sheng-Hong Tseng;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Hwu W.-L.; Chien Y.-H.; Lee N.-C.; SHENG-HONG TSENG; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2017 |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
|
YIN-HSIU CHIEN; Lee N.-C.; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2017 |
Newborn screening for severe combined immunodeficiency in Taiwan
|
YIN-HSIU CHIEN; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2017 |
A review of Biomarkers for Alzheimer’s Disease in Down Syndrome
|
Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 國立成功大學 |
2017 |
Newborn screening for severe combined immunodeficiency in Taiwan
|
Chien, Y.-H.;Yu, H.-H.;Lee, N.-C.;Ho, Ho H.-C.;Kao, S.-M.;Lu, M.-Y.;Jaing, T.-H.;Lee, W.-I.;Chang, K.-W.;Shieh, C.-C.;Chen, J.-S.;Chiang, S.-C.;Liu, C.-C.;Hwu, W.-L. |
