臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	機構典藏計畫網站
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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:23Z	Pincer nail deformity as the main manifestation of Clouston syndrome	Hu Y.-H.;Lin Y.-C.;Wuh-Liang Hwu;Lee Y.-M.; Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:22Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency	Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:21Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; WUH-LIANG HWU; Lin D.-T.
臺大學術典藏	2020-12-16T02:25:21Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:21Z	Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene	Lee N.-C.; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:20Z	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:20Z	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.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:20Z	Integrated care for Down syndrome	Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:20Z	Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI	Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-16T02:25:19Z	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders	Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.
臺大學術典藏	2020-12-16T02:25:18Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.;Wuh-Liang Hwu;Torng P.-C.;Lee N.-C.;Shieh J.-Y.;Lu L.;Chien Y.-H.; Zeng Y.-T.; WUH-LIANG HWU; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:18Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Chiang H.-L.;Wang N.H.-H.;Song I.-W.;Chang C.-P.;Wen M.-S.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chen Y.-T.;Wu J.-Y.; Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-16T02:25:18Z	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.;Jeng Y.-M.;Hsu H.-C.;Pan H.-W.;Wuh-Liang Hwu;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; Jeng Y.-M.; Hsu H.-C.; Pan H.-W.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:17Z	The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease	Kishnani P.S.; Burton B.K.;Kronn D.F.;Wuh-Liang Hwu;Kishnani P.S.; Burton B.K.; Kronn D.F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:17Z	Management of confirmed newborn-screened patients with pompe disease across the disease spectrum	Kronn D.F.;Day-Salvatore D.;Wuh-Liang Hwu;Jones S.A.;Nakamura K.;Okuyama T.;Swoboda K.J.;Kishnani P.S.; Kronn D.F.; Day-Salvatore D.; WUH-LIANG HWU; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S.
臺大學術典藏	2020-12-16T02:25:17Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-16T02:25:17Z	Gene therapy with modified U1 small nuclear RNA	Wuh-Liang Hwu;Lee Y.-M.;Lee N.-C.; WUH-LIANG HWU; Lee Y.-M.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:16Z	Newborn screening for severe combined immunodeficiency in Taiwan	Chien Y.-H.;Yu H.-H.;Lee N.-C.;Ho H.-C.;Kao S.-M.;Lu M.-Y.;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Wuh-Liang Hwu; Chien Y.-H.; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement	Kishnani P.S.;Wuh-Liang Hwu; Kishnani P.S.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome	Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU

Showing items 316-340 of 458 (19 Page(s) Totally)
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