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

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Institution	Date	Title	Author
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.

Showing items 326-335 of 458 (46 Page(s) Totally)
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View [10|25|50] records per page