| 臺大學術典藏 |
2020-11-03T12:37:41Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Liou H.-H.; Lee N.-C.; Muramatsu S.-I.; LI-KAI TSAI; Ho S.-Y.;Chien Y.-H.;Li-Kai Tsai;Muramatsu S.-I.;Hwu W.-L.;Liou H.-H.;Lee N.-C.; Ho S.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2020-11-03T12:37:40Z |
Clinical features of Pompe disease with motor neuronopathy
|
Huang P.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; LI-KAI TSAI; Li-Kai Tsai;Hwu W.-L.;Lee N.-C.;Huang P.-H.;Chien Y.-H. |
| 臺大學術典藏 |
2020-11-03T12:21:56Z |
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.; 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 |
2020-11-03T12:21:51Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Wu R.-M.; CHUN-HWEI TAI; Byrne B.J.; Snyder R.O.; Chien Y.-H.; Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-11-03T12:21:48Z |
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.; 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 |
2020-11-03T12:21:47Z |
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.; CHUN-HWEI TAI; Hwu W.-L.; Wu R.-M.; Tseng S.-H. |
| 臺大學術典藏 |
2020-11-03T12:12:58Z |
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 |
2020-11-03T11:57:03Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Ming-Jang Chiu; Lee N.-C.; MING-JANG CHIU et al. |
| 臺大學術典藏 |
2020-11-03T11:56:53Z |
Composite Scores of Plasma Tau and β-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; 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 |
2020-11-03T11:32:31Z |
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C
|
Su Y.-N.; Chiou P.-C.; Yang C.-C.; Fietz M.J.; Yu C.-L.; Hwu W.-L.; MING-JEN LEE |
| 臺大學術典藏 |
2020-11-02T02:05:18Z |
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 |
2020-10-26T11:49:59Z |
Modified frameless stereotactic system for intracerebral delivery of viral vector in young children
|
Tseng S.-H.; Hwu W.-L.; RUEY-MEEI WU; Tai C.-H.; Tai C.-H.;Hwu W.-L.;Ruey-Meei Wu;Tseng S.-H. |
| 臺大學術典藏 |
2020-10-26T11:34:27Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
JYH-MING JIMMY JUANG; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2020-10-23T03:49:06Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; PO-NIEN TSAO; 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. |
| 臺大學術典藏 |
2020-09-22T09:06:23Z |
Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease
|
STEVEN SHINN-FORNG PENG; Li Y.-W.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:23Z |
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
|
Hsu Y.-S.;Hwu W.-L.;Huang S.-F.;Lu M.-Y.;Chen R.-L.;Lin D.-T.;Steven Shinn-Forng Peng;Lin K.-H.; Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; STEVEN SHINN-FORNG PENG; Lin K.-H. |
| 臺大學術典藏 |
2020-09-22T09:06:19Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Hwu W.-L.; Wang T.-R.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Chien Y.-H.;Steven Shinn-Forng Peng;Wang T.-R.;Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:16Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
Steven Shinn-Forng Peng;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Liu H.-M.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Chien Y.-H.; Hwu W.-L.; Liu H.-M. |
| 臺大學術典藏 |
2020-09-22T09:06:16Z |
Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children
|
Liang J.-S.;Lee W.-T.;Hwu W.-L.;Steven Shinn-Forng Peng;Chu L.-W.;Wang P.-J.;Shen Y.-Z.; Liang J.-S.; Lee W.-T.; Hwu W.-L.; STEVEN SHINN-FORNG PENG; Chu L.-W.; Wang P.-J.; Shen Y.-Z. |
| 臺大學術典藏 |
2020-09-22T09:06:13Z |
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
|
Chien Y.-H.;Lee N.-C.;Steven Shinn-Forng Peng;Hwu W.-L.; Chien Y.-H.; Lee N.-C.; STEVEN SHINN-FORNG PENG; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:12Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
Chen S.J.; Hwu W.L.; STEVEN SHINN-FORNG PENG; Huang A.C.; Tsai L.K.; Lee N.C.; Chien Y.H.; Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Steven Shinn-Forng Peng;Chen S.J.;Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T09:06:11Z |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
|
Hwu W.-L.; Tseng S.-C.; Hsu L.-W.; Wu A.S.-H.; Chen L.-C.; Huang A.-C.; Liu T.-T.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T09:06:10Z |
Schizencephaly in LEOPARD Syndrome
|
STEVEN SHINN-FORNG PENG; Liang J.-S.;Chien Y.-H.;Hwu W.-L.;Yeh S.-J.;Steven Shinn-Forng Peng; Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J. |
| 臺大學術典藏 |
2020-09-22T09:06:08Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Lee N.-C.;Tsai W.-Y.;Steven Shinn-Forng Peng;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; STEVEN SHINN-FORNG PENG; Tung Y.-C.; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:06Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
STEVEN SHINN-FORNG PENG; Weng W.-C.; Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-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 |
2020-09-22T09:06:05Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
|
Lee N.-C.; Hwu W.-L.; Huang A.-C.; Chang L.-M.; Cheng P.-W.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Lee C.-S. |
| 臺大學術典藏 |
2020-09-22T09:06:05Z |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
Chien Y.H.; STEVEN SHINN-FORNG PENG; 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 |
2020-09-22T09:06:04Z |
Outcome of early-treated type III Gaucher disease patients
|
Tsai F.-J.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:04Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; Chien Y.-H.; STEVEN SHINN-FORNG PENG; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:02Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
STEVEN SHINN-FORNG PENG; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T09:06:01Z |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
|
Hsu R.-H.;Hwu W.-L.;Chen M.;Chung I.-F.;Steven Shinn-Forng Peng;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:00Z |
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.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:57Z |
Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease
|
Peng S.S.-F.; Li Y.-W.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:56Z |
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
|
Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H. |
| 臺大學術典藏 |
2020-09-22T08:51:55Z |
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]
|
Wu C.-H.; Hwu W.-L.; Wang J.-K.; Young C.; Peng S.S.-F.; Kuo M.-F. |
| 臺大學術典藏 |
2020-09-22T08:51:54Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Chien Y.-H.; Peng S.-F.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:52Z |
Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children
|
Wang P.-J.; Shen Y.-Z.; Chu L.-W.; Peng S.S.-F.; Hwu W.-L.; Lee W.-T.; Liang J.-S. |
| 臺大學術典藏 |
2020-09-22T08:51:50Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
Chien Y.H.; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T08:51:50Z |
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
|
Chien Y.-H.; Lee N.-C.; Peng S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:48Z |
Schizencephaly in LEOPARD Syndrome
|
Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J.; Peng S.-F. |
| 臺大學術典藏 |
2020-09-22T08:51:47Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; Peng S.-F.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:45Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
|
Hwu W.-L.; Lee N.-C.; Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:45Z |
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. |
| 臺大學術典藏 |
2020-09-22T08:51:44Z |
Outcome of early-treated type III Gaucher disease patients
|
Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:43Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
Peng S.S.-F.; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T08:51:42Z |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
|
Chen C.-Y.; Peng S.S.-F.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Cheng W.-C.; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:41Z |
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.; Tseng W.-Y.I.; Hwu W.-L. |
| 臺大學術典藏 |
2020-08-21T08:51:22Z |
MRI in a case of adult-onset citrullinemia
|
Chen Y.-F.;Huang Y.-C.;Hon-Man Liu;Hwu W.-L.; Chen Y.-F.; Huang Y.-C.; HON-MAN LIU; Hwu W.-L. |
| 臺大學術典藏 |
2020-08-21T08:51:16Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
HON-MAN LIU; Hwu W.-L.; Chien Y.-H.; Tseng W.-Y.I.; Peng S.S.-F.; Peng S.S.-F.;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Hon-Man Liu |
| 臺大學術典藏 |
2020-07-20T05:28:05Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
|
Chu S.-Y.; Lin S.-J.; Chen C.-H.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE; Hsiue H.-C.;Lee N.-C.;Tsai H.-B.;Yang C.-C.;Wu C.-S.;Lee W.-T.;Weng W.-C.;Fan P.-C.;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.;Pei-Lin Lee |
