| 臺大學術典藏 |
2021-06-29T08:16:06Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
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Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:16:05Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
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Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:15:50Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
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Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J. |
| 臺大學術典藏 |
2021-06-24T07:19:36Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
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Huang H.-P.; Chien Y.-H.; LI-MIN HUANG; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
The controversy regarding diagnostic criteria for early myoclonic encephalopathy
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Wang P.-J.; WANG-TSO LEE; Hwu W.-L.; Young C.; Yau K.-I.T.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
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Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Tandem mass neonatal screening in Taiwan - Report from one center
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HSIANG-PO HUANG; Chu K.-L.; Chien Y.-H.; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
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HSIANG-PO HUANG; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:21Z |
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
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Chien Y.H.; HSIANG-PO HUANG; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C. |
| 臺大學術典藏 |
2021-06-03T06:50:17Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
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HSIANG-PO HUANG; 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.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2021-05-18T05:54:28Z |
Complications of erythropoietin in navigated brain gene therapy: A case report
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SHENG-HONG TSENG; Tai C.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-04-07T01:56:47Z |
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
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TING-YU YEN; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C. |
| 臺大學術典藏 |
2021-03-29T06:37:04Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
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Wu, E.-T.; Hwu, W.-L.; Chien, Y.-H.; Hsu, C.; Chen, T.-F.; Chen, N.-Q.; Chou, H.-C.; Tsao, P.-N.; Fan, P.-C.; Tsai, I.-J.; Lin, S.-P.; Hsieh, W.-S.; Chang, T.-M.; Chen, C.-N.; Lee, C.-H.; Chou, Y.-Y.; Chiu, P.-C.; Tsai, W.-H.; Hsiung, H.-C.; Lai, F.; Lee, N.-C.; FEI-PEI LAI |
| 臺大學術典藏 |
2021-03-18T05:59:08Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
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Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; KAI-YUAN TZEN; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2021-03-18T05:59:06Z |
Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency
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Lee N.-C.; Shieh Y.-D.; Chien Y.-H.; KAI-YUAN TZEN; 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 |
2021-03-18T05:59:04Z |
AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients
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Hwu W.-L.; Lee N.-C.; Shieh Y.-D.; KAI-YUAN TZEN; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H. |
| 臺大學術典藏 |
2021-03-18T05:59:02Z |
Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector
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Lee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T05:59:00Z |
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
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Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T02:02:47Z |
Outcome of early-treated type III Gaucher disease patients
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Lee N.-C.;Chien Y.-H.;Wong S.-L.;Sheen J.-M.;Tsai F.-J.;Peng S.-F.;Leung J.H.;Chao M.-C.;Chia-Tung Shun;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T02:02:21Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.;Chia-Tung Shun;Chen Y.-S.;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; CHIA-TUNG SHUN; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2021-02-04T06:46:28Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.; Tung Y.-C.; Hwu W.-L.; JIN-CHUNG SHIH; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; 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 |
2021-02-02T02:22:18Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; MING-SHIANG WU |
| 臺大學術典藏 |
2021-01-27T01:38:18Z |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
Lee M.J.; 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.; CHIA-LI YU |
| 臺大學術典藏 |
2021-01-21T02:05:00Z |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
|
Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; CHIEN-YI CHEN; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C. |
| 臺大學術典藏 |
2021-01-11T07:19:42Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Tsai W.-Y.; Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; SHIH-YAO LIU; Lee C.-T.; Shih-Yao Liu;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y. |
