| 臺大學術典藏 |
2018-09-10T08:30:45Z |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng, S.S.-F. and Chien, Y.-H. and Hwu, W.-L. and Liu, H.-M. and Tseng, I.W.-Y.; STEVEN SHINN-FORNG PENG; YIN-HSIU CHIEN; HON-MAN LIU; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T07:43:55Z |
Clinical features of AADC-deficient children and therapeutic prospects
|
Wuh-Liang Hwu and Yin-Hsiu Chien and Ni-Chung Lee and Wang-Tso Lee and Ruey-Meei Wu; 胡務亮;簡穎秀;李妮鍾;李旺祚;吳瑞美; HWU, WUH-LIANG;CHIEN, YIN-HSIU;LEE, NI-CHUNG;LEE, WANG-TSO;WU, RUEY-MEEI; YIN-HSIU CHIEN; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LEE, WANG-TSO; WU, RUEY-MEEI |
| 臺大學術典藏 |
2018-09-10T07:43:16Z |
Design of Genome Database System with the Sequence Alignment and Data Compression Mechanism
|
Wei-Hsin Chen,;Yu-Wen Lu,;Chia-Ping Shen,;Kai-Ping Hsu,;Fei-Pei Lai,;Yin-Hsiu Chien,; Wei-Hsin Chen,; Yu-Wen Lu,; Chia-Ping Shen,; Kai-Ping Hsu,; Fei-Pei Lai,; Yin-Hsiu Chien,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:16Z |
Design of Genome Database System with the Sequence Alignment and Data Compression Mechanism
|
Wei-Hsin Chen,;Yu-Wen Lu,;Chia-Ping Shen,;Kai-Ping Hsu,;Fei-Pei Lai,;Yin-Hsiu Chien,; Wei-Hsin Chen,; Yu-Wen Lu,; Chia-Ping Shen,; Kai-Ping Hsu,; Fei-Pei Lai,; Yin-Hsiu Chien,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System
|
Sung-Huai Hsieh,;Po-Hsun Cheng,;Sheau-Ling Hsieh,;Po-Hao Chen,;Yung-Ching Weng,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Po-Hsun Cheng,; Sheau-Ling Hsieh,; Po-Hao Chen,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
A Multi Model Voting Enhancement for Newborn Screening Healthcare Information System
|
Sung-Huai Hsieh,;Po-Hsun Cheng,;Sheau-Ling Hsieh,;Po-Hao Chen,;Yung-Ching Weng,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Po-Hsun Cheng,; Sheau-Ling Hsieh,; Po-Hao Chen,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:43:15Z |
Newborn Screening System Based on Adaptive Feature Selection and Support Vector Machines
|
Hsieh, Sung-Huai; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei; Hsieh, Sung-Huai; FEI-PEI LAI; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Shen, Chia-Ping; Chen, Wei-Hsin; Chen, Po-Hao; Hsieh, Sheau-Ling; Cheng, Po-Hsun; Lai, Feipei |
| 臺大學術典藏 |
2018-09-10T07:13:30Z |
Myopathy in Gaucher disease
|
Chih-Chao Yang; Tsai, L.-K. and Chien, Y.-H. and Yang, C.-C. and Hwu, W.-L.; LI-KAI TSAI; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
Web Services Based Newborn Screening System with Support Vector Machines
|
Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yung-Ching Weng,; Yin-Hsiu Chien,; Zhenyu Wang,; Po-Hao Chen,; Hsing-Yu Chang,; Feipei Lai,; Wu-Liang Hwu,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture
|
Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 臺大學術典藏 |
2018-09-10T07:09:39Z |
An Enhanced Low-Power Precomputation-Based Content-Addressable Memory Architecture
|
Sung-Huai Hsieh,;Sheau-Ling Hsieh,;Yin-Hsiu Chien,;Zhenyu Wang,;Feipei Lai,; Sung-Huai Hsieh,; Sheau-Ling Hsieh,; Yin-Hsiu Chien,; Zhenyu Wang,; Feipei Lai,; FEI-PEI LAI |
| 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 |
2018-09-10T06:14:51Z |
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 |
2018-09-10T05:46:37Z |
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 |
2018-09-10T04:43:56Z |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
|
Su, Y.-N. and Lee, C.-N. and Chien, S.-C. and Hung, C.-C. and Chien, Y.-H. and Chen, C.-A.; CHI-AN CHEN; CHIEN-NAN LEE; YIN-HSIU CHIEN |
| 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 |
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 |
Family history of early infant death correlates with earlier age at diagnosis but not shorter time to diagnosis for severe combined immunodeficiency
|
He J.X.; Chen T.-X.; Chen X.Y.; Chan K.-W.; Lee P.P.; Mao H.; Wai Luk A.D.; YIN-HSIU CHIEN; Chin T.J.; Nguyen T.V.A.; Shek L.P.; Lee A.C.W.; Latiff A.H.A.; Rawat A.; Gupta A.; Singh S.; Daengsuwan T.; Kechout N.; Suri D.; Tao Y.B.; Xu Y.B.; Jiang L.P.; Liew W.K.; Jirapongsananuruk O.; Latiff Z.A.; Le T.M.H.; Le N.N.Q.; Lee B.W.; Li Q.; Raj D.; Barbouche M.-R.; Thong M.-K.; Ang M.C.D.; Wang X.C.; Xu C.G.; Yu H.G.; Yu H.-H.; Lee T.L.; Yau F.Y.S.; Wong W.H.; Tu W.; Yang W.; Chong P.C.Y.; Ho M.H.K.; Lau Y.L. |
| 臺大學術典藏 |
2017 |
Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders
|
Blom H.J.; Wedell A.; Bari? I.; Staufner C.; Augoustides-Savvopoulou P.; YIN-HSIU CHIEN; Dobbelaere D.; Gr?nert S.C.; Opladen T.; Petkovi? Ramad?a D.; Raki? B. |
| 臺大學術典藏 |
2017 |
Russell–Silver syndrome presenting with ambiguous genitalia
|
Chang I.-F.; YIN-HSIU CHIEN; Tsai W.-Y.; Lee N.-C. |
| 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. |
| 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 |
2015 |
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
|
Hwu W.-L.; Byrne B.J.; Lee N.-C.; Muramatsu S.-I.; YIN-HSIU CHIEN; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y. |
| 臺大學術典藏 |
2014 |
Development of a feasible assay for the detection of GAA mutations in patients with Pompe disease
|
Er T.-K.; Chen C.-C.; YIN-HSIU CHIEN; Liang W.-C.; Kan T.-M.; Jong Y.-J. |
| 臺大學術典藏 |
2014 |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; YIN-HSIU CHIEN; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2014 |
The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients
|
Raben N.; Ralston E.; Kishnani P.S.; Feeney E.J.; Austin S.; YIN-HSIU CHIEN; Mandel H.; Schoser B.; Prater S.; Hwu W.-L. |
| 臺大學術典藏 |
2013 |
Analysis of lyso-globotriaosylsphingosine in dried blood spots
|
Johnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; YIN-HSIU CHIEN; Mar?di L.; Hwu W.-L.; Bodamer O.A. |
| 臺大學術典藏 |
2013 |
Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency
|
Lee N.-C.; Shieh Y.-D.; YIN-HSIU CHIEN; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L. |
| 臺大學術典藏 |
2013 |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
|
Lee C.-S.; YIN-HSIU CHIEN; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2013 |
Diagnosing mucopolysaccharidosis IVA
|
Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; Hwu W.-L.; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J. |
| 臺大學術典藏 |
2013 |
AADC deficiency. Occurring in humans, modeled in rodents.
|
YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Ichinose H. |
| 臺大學術典藏 |
2013 |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
YIN-HSIU CHIEN; Han D.-S.; Hwu W.-L.; Thurberg B.L.; Yang W.-S. |
| 臺大學術典藏 |
2013 |
erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)
|
Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2013 |
Clinical features and genetic analysis of Taiwanese patients with the hyper IgM syndrome phenotype
|
Lee W.-I.; Huang J.-L.; Yeh K.-W.; Yang M.-J.; Lai M.-C.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin S.-J.; Jaing T.-H.; Chen S.-H.; Hsieh M.-Y.; Yu H.-H.; YIN-HSIU CHIEN; Shyur S.-D. |
| 臺大學術典藏 |
2013 |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
YIN-HSIU CHIEN; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L. |
| 臺大學術典藏 |
2012 |
Newborn screening for phenylketonuria: Machine learning vs clinicians
|
Hsu K.-P.; Tseng Y.-J.; Chen H.-P.; Chen W.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F. |
| 臺大學術典藏 |
2012 |
Integrating human genome database into electronic health record with sequence alignment and compression mechanism
|
Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2012 |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2012 |
Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2011 |
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy
|
Wu M.-H.; Chen C.-A.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H. |
