| 臺大學術典藏 |
2020-04-16T02:35:07Z |
The design and implementation of a next generation information system for newborn screening
|
FEI-PEI LAI; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; Chang, H.-Y.; Tang, M.-Y.; Tu, C.-M. |
| 臺大學術典藏 |
2020-04-16T02:34:58Z |
Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians
|
Chen, W.-H.;Hsieh, S.-L.;Hsu, K.-P.;Chen, H.-P.;Su, X.-Y.;Tseng, Y.-J.;Chien, Y.-H.;Hwu, W.-L.;Lai, F.; Chen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; Chien, Y.-H.; Hwu, W.-L.; Lai, F.; FEI-PEI LAI |
| 臺大學術典藏 |
2020-04-07T08:52:09Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Chien Y.-H.; Lu L.; JENG-YI SHIEH; Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-31T08:09:02Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Yang W.-S.; Thurberg B.L.; Hwu W.-L.; DER-SHENG HAN; Chien Y.-H.;Der-Sheng Han;Hwu W.-L.;Thurberg B.L.;Yang W.-S.; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-27T02:03:57Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Wu M.-S.; KAO-LANG LIU; Wu M.-Z.; Hwu W.-L.; Chen H.-L.; Yang C.-C.; Tsai C.-W.; Tsai C.-W.;Yang C.-C.;Chen H.-L.;Hwu W.-L.;Wu M.-Z.;Kao-Lang Liu;Wu M.-S. |
| 臺大學術典藏 |
2020-03-24T04:02:54Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Lu Y.-S.; Bai L.-Y.; Liu T.-P.; WEN-HUNG KUO; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J. |
| 臺大學術典藏 |
2020-03-23T07:52:30Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Tsai W.-Y.; Lee N.-C.; Liu S.-Y.; Jong Y.-J.; Su Y.-N.; Chen M.; Yang Y.-L.; Chen H.-L.; Wu M.-Z.; Kuo K.-T.; WEN-HSI LIN; Shih J.-C.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.;Tsai W.-Y.;Liu S.-Y.;Jong Y.-J.;Su Y.-N.;Chen M.;Chen H.-L.;Yang Y.-L.;Kuo K.-T.;Wu M.-Z.;WEN-HSI LIN;Shih J.-C.;Hwu W.-L.;Tung Y.-C.;Lee C.-T.; Lee C.-T. |
| 臺大學術典藏 |
2020-03-12T08:24:37Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Muramatsu S.-I.; SHENG-HONG TSENG; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2020-03-12T08:24:29Z |
Modified frameless stereotactic system for intracerebral delivery of viral vector in young children
|
Tai C.-H.; Hwu W.-L.; Wu R.-M.; SHENG-HONG TSENG |
| 臺大學術典藏 |
2020-03-11T05:22:50Z |
Identification and management of cardiac perforation from a double lumen catheter in an infant [6]
|
Wang C.-C.;Chen Y.-W.;Wu E.-T.;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Shu-Chien Huang; Wang C.-C.; Chen Y.-W.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Ko W.-J.; SHU-CHIEN HUANG |
| 臺大學術典藏 |
2020-03-11T05:22:46Z |
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter
|
Shu-Chien Huang;Wu E.-T.;Chiu S.;Hwu W.-L.;Wu M.-H.;Wang S.-S.; SHU-CHIEN HUANG; Wu E.-T.; Chiu S.; Hwu W.-L.; Wu M.-H.; Wang S.-S. |
| 臺大學術典藏 |
2020-03-11T05:22:20Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
|
Tsai I.-J.;Hwu W.-L.;Shu-Chien Huang;Lee N.-C.;Wu E.-T.;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; SHU-CHIEN HUANG; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K. |
| 臺大學術典藏 |
2020-03-10T03:30:55Z |
Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case
|
Yang T.-Y.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.; Yang T.-Y.; HUEY-LING CHEN; Ni Y.-H.; Hwu W.-L.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-10T03:30:49Z |
Living-related liver transplantation for methylmalonic acidemia: Report of one case
|
Hsui J.-Y.;Chien Y.-H.;Chu S.-Y.;Lu F.L.;Huey-Ling Chen;Ho M.-J.;Lee P.-H.;Hwu W.-L.; Hsui J.-Y.; Chien Y.-H.; Chu S.-Y.; Lu F.L.; HUEY-LING CHEN; Ho M.-J.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:45Z |
Reye's syndrome developing in an infant on treatment of Kawasaki syndrome
|
Wei C.-M.;Huey-Ling Chen;Lee P.-I.;Chen C.-M.;Ma C.-Y.;Hwu W.-L.; Wei C.-M.; HUEY-LING CHEN; Lee P.-I.; Chen C.-M.; Ma C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:42Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.; Yang C.-C.; HUEY-LING CHEN; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; Wu M.-S.; Tsai C.-W.;Yang C.-C.;Huey-Ling Chen;Hwu W.-L.;Wu M.-Z.;Liu K.-L.;Wu M.-S. |
| 臺大學術典藏 |
2020-03-10T03:30:37Z |
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency
|
Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Huey-Ling Chen;Chiu P.-C.;Ni Y.-H.;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; HUEY-LING CHEN; Chiu P.-C.; Ni Y.-H.; Chang M.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-03-10T03:30:29Z |
Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease
|
Ling V.;Chang M.-H.;Jeng Y.-M.;Hwu W.-L.;HUEY-LING CHEN;Wang R.;HUEY-LING CHEN; HUEY-LING CHEN; Wang R.; Chen H.-L.; Hwu W.-L.; Jeng Y.-M.; Chang M.-H.; Ling V. |
| 臺大學術典藏 |
2020-03-10T03:30:29Z |
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
|
Chen H.-W.; HUEY-LING CHEN; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H. |
| 臺大學術典藏 |
2020-03-10T03:30:23Z |
X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
|
Chien Y.-H.; Ni Y.-H.; HUEY-LING CHEN; Chen S.-T.; Jeng Y.-M.; Chang M.-H.; Hwu W.-L. |
| 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. |
