| 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
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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
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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. |
| 臺大學術典藏 |
2016 |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
Hwu W.-L.; Lee N.-C.; Chien Y.-H.; LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H. |
| 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 |
2016 |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme
|
Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2016 |
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
|
Lin H.-Y.; Chuang C.-K.; Wang C.-H.; YIN-HSIU CHIEN; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; Hwu W.-L.; Ke Y.-Y.; Lin S.-P. |
| 臺大學術典藏 |
2016 |
Integrated care for Down syndrome
|
Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2016 |
Long-term outcome for Down syndrome patients with hematopoietic disorders
|
Lin D.-T.; Hwu W.-L.; Lin K.-H.; Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; YIN-HSIU CHIEN; Lu M.-Y.; Jou S.-T. |
| 臺大學術典藏 |
2016 |
Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency
|
Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2016 |
Long-term outcome for Down syndrome patients with hematopoietic disorders
|
Chien Y.-H.; Chang H.-H.; Yen H.-J.; Yang Y.-L.; Lee N.-C.; Li M.-J.; Li M.-J.;Lee N.-C.;Yang Y.-L.;Yen H.-J.;Chang H.-H.;Chien Y.-H.;Lu M.-Y.;Shiann-Tang Jou;Lin K.-H.;Hwu W.-L.;Lin D.-T.; Lu M.-Y.; SHIANN-TANG JOU; Lin K.-H.; Hwu W.-L.; Lin D.-T. |
| 國立臺灣大學 |
2015 |
Pincer nail deformity as the main manifestation of Clouston syndrome
|
Hu, Y. -H.; Lin, Y. -C.; Hwu, W. -L.; Lee, Y. -M.; 胡務亮 |
| 臺大學術典藏 |
2015 |
Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth
|
Hwu W.-L.; Hsu W.-C.; Tsai T.-H.; Chien Y.-H.; Huang H.-J.; JENG-YI SHIEH; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H. |
