| 臺大學術典藏 |
2020 |
The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan
|
Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Chuang C.-K.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lin H.-Y.; Tan L.T.H.-C.; Lee C.-L.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Mei-Hwan Wu;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; MEI-HWAN WU; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Lee C.-T.; Liu M.-Y.; Liu M.-Y.;Lee C.-T.;Lee N.-C.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Lee N.-C.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
Development of newborn screening for pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Lin C.-Y.; Chang F.-M.; Hsu Y.-K.; WEN-CHIN WENG; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lee W.-T. |
| 國立成功大學 |
2020 |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
Chien, Y.-H.;Tsai, W.-H.;Chang, Chang C.-L.;Chiu, P.-C.;Chou, Y.-Y.;Tsai, F.-J.;Wong, S.-L.;Lee, N.-C.;Hwu, W.-L. |
| 國立成功大學 |
2020 |
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome
|
Kao, H.-J.;Chiang, H.-L.;Chen, H.-H.;Fan, P.-C.;Tu, Y.-F.;Chou, Y.-Y.;Hwu, W.-L.;Lin, C.-L.;Kwok, P.-Y.;Lee, N.-C. |
| 臺大學術典藏 |
2019-12-05T06:27:01Z |
Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome
|
Chan P.-C.;Hsien-Ching Chiu;Hwu W.-L.; Chan P.-C.; HSIEN-CHING CHIU; Hwu W.-L. |
| 臺大學術典藏 |
2019-11-29T03:04:27Z |
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]
|
Wu C.-H.;Hwu W.-L.;Wang J.-K.;Young C.;Peng S.S.-F.;Meng-Fai Kuo; Wu C.-H.; Hwu W.-L.; Wang J.-K.; Young C.; Peng S.S.-F.; MENG-FAI KUO |
| 臺大學術典藏 |
2019-11-27T06:54:13Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.;Shun C.-T.;Yih-Sharng Chen;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; Shun C.-T.; YIH-SHARNG CHEN; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN; Lee N.-C.; Chen S.-J.; Chen S.-J.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin |
| 臺大學術典藏 |
2019 |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
En-Ting Wu;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 C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; EN-TING WU; 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 C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2019 |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
|
Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; 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.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; 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.; Cazorla A.G.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; 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.; Additional individual contributors from E-IMD |
| 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 |
| 臺大學術典藏 |
2018-09-10T08:30:45Z |
A reliable password-based user authentication scheme for web-based human genome database system
|
FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU; Chen, W.-H.; Wu, Z.-Y.; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; FEI-PEI LAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T07:47:00Z |
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
|
Hsu, Y.-S.;Hwu, W.-L.;Huang, S.-F.;Lu, M.-Y.;Chen, R.-L.;Lin, D.-T.;Peng, S.S.F.;Lin, K.-H.; KAI-HSIN LIN |
| 臺大學術典藏 |
2018-09-10T07:24:56Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang, S.-M.; LI-HUI TSENG; HSIAO-LIN HWA |
| 臺大學術典藏 |
2018-09-10T07:24:56Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko, T.-M.;Hwu, W.-L.;Lin, Y.-W.;Tseng, L.-H.;Hwa, H.-L.;Wang, T.-R.;Chuang S.-, M.;Hayashi, K.; LI-HUI TSENG; HSIAO-LIN HWA |
| 臺大學術典藏 |
2018-09-10T07:12:49Z |
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter
|
Huang, S.-C.; Wu, E.-T.; Chiu, S.; Hwu, W.-L.; Wu, M.-H.; Wang, S.-S.; SHUENN-NAN CHIU; MEI-HWAN WU; SHOEI-SHEN WANG; SHU-CHIEN HUANG; WUH-LIANG HWU; EN-TING WU |
| 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. |
