| 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. |
| 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. |
