| 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.; PI-CHUAN FAN; Chien Y.-H.; Hwu W.-L.; 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 |
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 |
2015 |
Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth
|
Tsai W.-H.; Shieh J.-Y.; Tsai F.-J.; CHUN-AN CHEN; Lee N.-C.; Chien Y.-H.; Chien Y.-H.;Lee N.-C.;Chun-An Chen;Tsai F.-J.;Tsai W.-H.;Shieh J.-Y.;Huang H.-J.;Hsu W.-C.;Tsai T.-H.;Hwu W.-L.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L. |
| 國立交通大學 |
2014-12-08T15:24:03Z |
NEWBORN SCREENING FOR HOMOCYSTINURIA: MACHINE LEARNING VS CLINICIANS
|
Chen, W. H.; Chen, H. P.; Tseng, Y. J.; Hsu, K. P.; Hsieh, S. L.; Chien, Y. H.; Hwu, W. L.; Lai, F. |
| 臺大學術典藏 |
2014 |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Chien C.-C.; Hwu W.-L.; Lee N.-C.; Lee C.-T.; Tung Y.-C. |
| 臺大學術典藏 |
2014 |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
|
Lee N.-C.; Huang S.-C.; Hwu W.-L.; I-JUNG TSAI; Wu E.-T.; Chien Y.-H.; Tsau Y.-K. |
| 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 |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; YI-CHING TUNG; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2014 |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; NI-CHUNG LEE |
| 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. |
| 國立臺灣大學 |
2013 |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
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 |
| 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.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P. |
| 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 |
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 |
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
|
Chien Y.-H.; Lee N.-C.; PEI-HSIN HUANG; Lee W.-T.; Thurberg B.L.; 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
|
Lee N.-C.; Hwu W.-L.; Tsai I.-J.; Lee W.-T.; Huang P.-H.; Wu E.-T.; Weng W.-C.; Peng S.-F.; Chien Y.-H.; Wu J.-F.; Tsai L.-P.; Liu H.-M. |
| 臺大學術典藏 |
2012 |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
|
Yeang C.-H.; Ma G.-C.; Shih J.-C.; Yang Y.-S.; Chen C.-P.; Chang S.-P.; Wu S.-H.; Liu C.-S.; Kuo S.-J.; HUNG-CHIEH CHOU; Hwu W.-L.; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M. |
| 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. |
