| 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
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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.
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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
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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. |
| 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 |
2012 |
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system
|
Hwu W.-L.; YEN-HSUAN NI; Su Y.-N.; Chen S.-T.; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H. |
| 臺大學術典藏 |
2012 |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
Huang P.-H.; Wu E.-T.; Peng S.-F.; WEN-CHIN WENG; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2011 |
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; Chien Y.-H; Stone L; Chien C.-L; Li L.-T; Chiang S.-C; Chen H.-F; HONG-NERNG HO; Chen C.-H; Kuo H.-C. |
| 臺大學術典藏 |
2011 |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y. |
| 臺大學術典藏 |
2011 |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
STEVEN SHINN-FORNG PENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y. |
| 臺大學術典藏 |
2011 |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Tseng I.W.-Y.; Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; HON-MAN LIU |
| 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
|
Chen C.-A. ;Chien Y.-H. ;Hwu W.-L. ;Lee N.-C. ;Wang J.-K. ;Chen L.-R. ;Lu C.-W. ;Lin M.-T. ;Shuenn-Nan Chiu ;Chiu H.-H. ;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H. |
| 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. |
