| 臺大學術典藏 |
2020-03-10T03:30:10Z |
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system
|
Chang M.-H.; Chang C.-C.; HUEY-LING CHEN; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-T. |
| 臺大學術典藏 |
2020-03-10T03:29:49Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Huey-Ling Chen;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; HUEY-LING CHEN; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-07T06:42:04Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuan-Ting Kuo;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-06T08:25:45Z |
Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.
|
Tsai S.Y.;Yung-Ming Jeng;Hwu W.L.;Ni Y.H.;Chang M.H.;Wang T.R.; Tsai S.Y.; YUNG-MING JENG; Hwu W.L.; Ni Y.H.; Chang M.H.; Wang T.R. |
| 臺大學術典藏 |
2020-03-06T08:25:31Z |
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants
|
Yeh J.-N.; YUNG-MING JENG; Chen H.-L.; Ni Y.-H.; Hwu W.-L.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-06T08:25:23Z |
X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
|
Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; YUNG-MING JENG; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-06T08:24:53Z |
Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10
|
Cheng W.;Huang P.-C.;Chao H.-M.;Yung-Ming Jeng;Hsu H.-C.;Pan H.-W.;Hwu W.-L.;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; YUNG-MING JENG; Hsu H.-C.; Pan H.-W.; Hwu W.-L.; Lee Y.-M. |
| 臺大學術典藏 |
2020-03-05T08:16:42Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T08:16:42Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Pei-Hsin Huang;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; PEI-HSIN HUANG; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T08:16:40Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; PEI-HSIN HUANG; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-05T08:16:37Z |
Clinical features of Pompe disease with motor neuronopathy
|
Tsai L.-K.;Hwu W.-L.;Lee N.-C.;Pei-Hsin Huang;Chien Y.-H.; Tsai L.-K.; Hwu W.-L.; Lee N.-C.; PEI-HSIN HUANG; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-05T07:52:26Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; KUAN-TING KUO; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J. |
| 臺大學術典藏 |
2020-03-05T06:05:48Z |
Adenoviral interneuronal transportation after retrograde gene transfer in mice
|
LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2020-03-05T06:05:47Z |
Valproic acid treatment in six patients with spinal muscular atrophy [5]
|
LI-KAI TSAI; Yang C.-C.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2020-03-05T06:05:47Z |
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
|
LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2020-03-05T06:05:46Z |
Myopathy in Gaucher disease
|
LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T06:05:45Z |
Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy
|
LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2020-03-05T06:05:43Z |
IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice
|
LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A. |
| 臺大學術典藏 |
2020-03-05T06:05:41Z |
Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice
|
LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H. |
| 臺大學術典藏 |
2020-03-05T06:05:37Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T06:05:31Z |
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.; LI-KAI TSAI; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-05T06:05:29Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-05T06:05:28Z |
Clinical features of Pompe disease with motor neuronopathy
|
LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-05T01:18:09Z |
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
|
Wu R.-M.; Shan D.-E.; Sun C.-M.; Liu R.-S.; Hwu W.-L.; CHUN-HWEI TAI; Hussey J.; West A.; Gwinn-Hardy K.; Hardy J.; Chen J.; Farrer M.; Lincoln S. |
| 臺大學術典藏 |
2020-03-05T01:18:08Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
Lin C.-H.; Hwu W.-L.; Chiang S.-C.; CHUN-HWEI TAI; Wu R.-M. |
| 臺大學術典藏 |
2020-03-05T01:18:05Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; CHUN-HWEI TAI; Wu R.-M. |
| 臺大學術典藏 |
2020-03-05T01:18:01Z |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
|
Chien Y.-H.; Lee N.-C.; Tseng S.-H.; CHUN-HWEI TAI; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-05T01:17:59Z |
Modified frameless stereotactic system for intracerebral delivery of viral vector in young children
|
CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H. |
| 臺大學術典藏 |
2020-03-04T07:45:12Z |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Chen S.-J.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; CHIN-HSIEN LIN |
| 臺大學術典藏 |
2020-03-04T07:45:11Z |
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
|
Wu R.-M.; Bounds R.; Lincoln S.; Hulihan M.; CHIN-HSIEN LIN; Hwu W.-L.; Chen J.; Gwinn-Hardy K.; Farrer M. |
| 臺大學術典藏 |
2020-03-04T07:45:10Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
CHIN-HSIEN LIN; Hwu W.-L.; Chiang S.-C.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2020-03-04T05:35:18Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K.; Wu Y.R.; Hwu W.L.; Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; Chen T.F.; Wang H.C.; Chao M.C.; MING-JANG CHIU; Lu C.J.; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-03-04T05:34:56Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Huang A.-C.; Chien Y.-H.; Hwu W.-L.; MING-JANG CHIU; Chiu Y.-N.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M. |
| 臺大學術典藏 |
2020-03-04T05:34:46Z |
Composite Scores of Plasma Tau and �]-Amyloids Correlate with Dementia in down Syndrome
|
Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; MING-JANG CHIU |
| 臺大學術典藏 |
2020-03-03T03:06:54Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
Peng S.S.-F.;Wen-Yih Tseng;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; Peng S.S.-F.; WEN-YIH TSENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M. |
| 臺大學術典藏 |
2020-03-03T03:06:22Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; WEN-YIH TSENG; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
MING-JEN LEE; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; Yu C.L. |
| 臺大學術典藏 |
2020-03-03T02:33:35Z |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
|
Yang C.-C.; Su Y.-N.; Chiou P.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE |
| 臺大學術典藏 |
2020-03-03T01:14:51Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; Wu R.M; TA-FU CHEN; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-02-27T01:50:09Z |
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.;Chung-Liang Chien;Li L.-T.;Chiang S.-C.;Chen H.-F.;Ho H.-N.;Chen C.-H.;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-27T01:50:09Z |
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. ;Chung-Liang Chien ;Li L.-T. ;Chiang S.-C. ;Chen H.-F. ;Ho H.-N. ;Chen C.-H. ;Kuo H.-C.; Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; Chien Y.-H.; Stone L.; CHUNG-LIANG CHIEN; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-26T07:30:05Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Ho S.-Y; Chien Y.-H; Tsai L.-K; Muramatsu S.-I; Hwu W.-L; HORNG-HUEI LIOU; Lee N.-C. |
| 臺大學術典藏 |
2020-02-25T08:01:46Z |
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and Parkin gene mutations
|
Ruey-Meei Wu;Shan D.-E;Sun C.-M;Liu R.-S;Hwu W.-L;Tai C.-H;Hussey J;West A;Gwinn-Hardy K;Hardy J;Chen J;Farrer M;Lincoln S.; RUEY-MEEI WU; Shan D.-E; Sun C.-M; Liu R.-S; Hwu W.-L; Tai C.-H; Hussey J; West A; Gwinn-Hardy K; Hardy J; Chen J; Farrer M; Lincoln S. |
| 臺大學術典藏 |
2020-02-25T08:01:45Z |
DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients
|
Wang C.K;Wu Y.R;Hwu W.L;Chen C.M;Ro L.S;Chen S.T;Gwinn-Hardy K;Yang C.C;Ruey-Meei Wu;Chen T.F;Wang H.C;Chao M.C;Chiu M.J;Lu C.J;Lee-Chen G.J.; Wang C.K; Wu Y.R; Hwu W.L; Chen C.M; Ro L.S; Chen S.T; Gwinn-Hardy K; Yang C.C; RUEY-MEEI WU; Chen T.F; Wang H.C; Chao M.C; Chiu M.J; Lu C.J; Lee-Chen G.J. |
| 臺大學術典藏 |
2020-02-25T08:01:44Z |
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
|
Ruey-Meei Wu;Bounds R;Lincoln S;Hulihan M;Lin C.-H;Hwu W.-L;Chen J;Gwinn-Hardy K;Farrer M.; RUEY-MEEI WU; Bounds R; Lincoln S; Hulihan M; Lin C.-H; Hwu W.-L; Chen J; Gwinn-Hardy K; Farrer M. |
| 臺大學術典藏 |
2020-02-25T08:01:42Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
Lin C.-H; Hwu W.-L; Chiang S.-C; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-25T08:01:29Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L; Muramatsu S.-I; Tseng S.-H; Tzen K.-Y; Lee N.-C; Chien Y.-H; Snyder R.O; Byrne B.J; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-24T01:33:42Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Rey-Heng Hu;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; REY-HENG HU; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-02-19T09:34:00Z |
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.;Ming-Chih Ho;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; MING-CHIH HO; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-02-19T09:33:54Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.; Hwu W.L.; MING-CHIH HO; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H. |
