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显示项目 466-490 / 770 (共31页)
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机构 日期 题名 作者
臺大學術典藏 2020-11-19T03:20:19Z 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.;Ho M.-C.;Po-Huang Lee;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; PO-HUANG LEE; Hwu W.-L.
臺大學術典藏 2020-11-19T03:19:45Z Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation Chen P.W.; Hwu W.L.; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; PO-HUANG LEE
臺大學術典藏 2020-11-03T12:37:58Z Valproic acid treatment in six patients with spinal muscular atrophy [5] Li H.; Hwu W.-L.; LI-KAI TSAI; Yang C.-C.
臺大學術典藏 2020-11-03T12:37:58Z Adenoviral interneuronal transportation after retrograde gene transfer in mice Hwu W.-L.; Li H.; Shyue S.-K.; Tsai M.-S.; LI-KAI TSAI; Li-Kai Tsai;Tsai M.-S.;Shyue S.-K.;Hwu W.-L.;Li H.
臺大學術典藏 2020-11-03T12:37:58Z Establishing a standardized therapeutic testing protocol for spinal muscular atrophy Li-Kai Tsai;Tsai M.-S.;Lin T.-B.;Hwu W.-L.;Li H.; LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H.
臺大學術典藏 2020-11-03T12:37:57Z Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy Li H.; Hwu W.-L.; Su Y.-N.; Ting C.-H.; Yang C.-C.; LI-KAI TSAI
臺大學術典藏 2020-11-03T12:37:57Z Myopathy in Gaucher disease Yang C.-C.; Chien Y.-H.; LI-KAI TSAI; Hwu W.-L.
臺大學術典藏 2020-11-03T12:37:55Z IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice Passini M.A.; Cheng S.H.; Hwu W.-L.; Dodge J.C.; Ting C.-H.; LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.
臺大學術典藏 2020-11-03T12:37:52Z Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice Passini M.A.; Dodge J.C.; Hwu W.-L.; Lin-Chao S.; Ting C.-H.; Chen C.-L.; LI-KAI TSAI; Li-Kai Tsai;Chen C.-L.;Ting C.-H.;Lin-Chao S.;Hwu W.-L.;Dodge J.C.;Passini M.A.;Cheng S.H.; Cheng S.H.
臺大學術典藏 2020-11-03T12:37:43Z 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.; 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 2020-11-03T12:37:41Z 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.

显示项目 466-490 / 770 (共31页)
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