| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan
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Tung Y.-C.;Fann C.S.-J.;Chang C.-C.;Chu C.-C.;Yang W.-S.;Wuh-Liang Hwu;Chen P.-L.;Tsai W.-Y.; Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; Yang W.-S.; WUH-LIANG HWU; Chen P.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
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Lee N.-C.;Wuh-Liang Hwu;Muramatsu S.-I.;Falk D.J.;Byrne B.J.;Cheng C.-H.;Shih N.-C.;Chang K.-L.;Tsai L.-K.;Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; Tsai L.-K.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
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Posset R.;Garbade S.F.;Boy N.;Burlina A.B.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;De Lonlay P.;Teles E.L.;Vara R.;Ah Mew N.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.;Seminara J.;Summar M.;Hoffmann G.F.;K?Lker S.;Burgard P.;Berry S.A.;Burrage L.;Coughlin C.;Diaz G.A.;Gallagher R.C.;Gropman A.;Harding C.O.;Lee B.;Le Mons C.;Merritt J.L.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeld-Adams J.;Wong D.;Yudkoff M.;Arnoux J.-B.;Bari? I.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?S-Saladefont E.;Couce M.L.;De Laet C.;De Meirleir L.;Eyskens F.;Freisinger P.;Gleich F.;Gr?Newald S.;H?Berle J.;Wuh-Liang Hwu;Jalan A.;Karall D.;Lindner M.;Lund A.M.;Martinelli D.;Murphy E.;M?Hlhausen C.;Olivieri G.;Ottolenghi C.;Rodrigues E.;Rubert L.;Sarajlija A.;Schiff M.;Sokal E.;Sykut-Cegielska J.;Walter J.H.;Williams M.;Zeman J.;Additional Individual Contributors Of The Ucdc;The E-Imd Consortium; Posset R.; Garbade S.F.; Boy N.; Burlina A.B.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; de Lonlay P.; Teles E.L.; Vara R.; Ah Mew N.; Batshaw M.L.; Baumgartner M.R.; McCandless S.; Seminara J.; Summar M.; Hoffmann G.F.; K?lker S.; Burgard P.; Berry S.A.; Burrage L.; Coughlin C.; Diaz G.A.; Gallagher R.C.; Gropman A.; Harding C.O.; Lee B.; Le Mons C.; Merritt J.L.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.; Wong D.; Yudkoff M.; Arnoux J.-B.; Bari? I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?s-Saladefont E.; Couce M.L.; de Laet C.; de Meirleir L.; Eyskens F.; Freisinger P.; Gleich F.; Gr?newald S.; H?berle J.; WUH-LIANG HWU; Jalan A.; Karall D.; Lindner M.; Lund A.M.; Martinelli D.; Murphy E.; M?hlhausen C.; Olivieri G.; Ottolenghi C.; Rodrigues E.; Rubert L.; Sarajlija A.; Schiff M.; Sokal E.; Sykut-Cegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional Individual Contributors Of The Ucdc; The E-Imd Consortium |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders (Journal of Inherited Metabolic Disease, (2016), 39, 5, (661-672), 10.1007/s10545-016-9938-9)
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Lonlay P.; Martinelli D.; Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium; Lindner M.; Karall D.; Laet C.; Jalan A.; Garcia-Cazorla A.; Valayannopoulos V.; Le?o Teles E.; 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.; Arnoux J.-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.; Posset R.;Garcia-Cazorla A.;Valayannopoulos V.;Le?O Teles E.;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.;Arnoux J.-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.;Laet C.;Lindner M.;Lonlay P.;Martinelli D.;Meirleir L.;Mention K.;M?Hlhausen C.;Murphy E.;Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Riches V.;Rodrigues E.;Sokal E.;Thompson N.;Wijburg F.A.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Posset R. |
| 臺大學術典藏 |
2020-12-16T02:25:13Z |
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias (Journal of Inherited Metabolic Disease, (2016), 39, 3, (341-353), 10.1007/s10545-015-9907-8)
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Heringer J.;Valayannopoulos V.;Lund A.M.;Wijburg F.A.;Freisinger P.;Bari? I.;Baumgartner M.R.;Burgard P.;Burlina A.B.;Chapman K.A.;I Saladelafont E.C.;Karall D.;M?Hlhausen C.;Riches V.;Schiff M.;Sykut-Cegielska J.;Walter J.H.;Zeman J.;Chabrol B.;K?Lker S.;Aksglaede L.;Avram P.;Balmaseda-Serrano E.;Bauchart E.;Blasco-Alonso J.;Brassier A.;Chakrapani A.;Chien Y.-H.;Couce M.L.;De Laet C.;De Lonlay P.;De Meirleir L.;Dionisi-Vici C.;Dobbelaere D.;Garcia-Cazorla A.;Gleich F.;Gradowska W.;Gr?Newald S.;Haege G.;H?Berle J.;Wuh-Liang Hwu;Ioannou H.;Lachmann R.;Langereis E.;Teles E.L.;L?Pez-Laso E.;Matsumoto S.;De Baulny H.O.;Ortez C.;Pe?A-Quintana L.;Ruiz-Gomez A.;Sarajlija A.;Summar M.L.;Thompson N.;Vara R.;Pinera I.V.;Williams M.;Zielonka M.;Additional Individual Contributors Of The E-Imd Consortium; Heringer J.; Valayannopoulos V.; Lund A.M.; Wijburg F.A.; Freisinger P.; Bari? I.; Baumgartner M.R.; Burgard P.; Burlina A.B.; Chapman K.A.; i Saladelafont E.C.; Karall D.; M?hlhausen C.; Riches V.; Schiff M.; Sykut-Cegielska J.; Walter J.H.; Zeman J.; Chabrol B.; K?lker S.; Aksglaede L.; Avram P.; Balmaseda-Serrano E.; Bauchart E.; Blasco-Alonso J.; Brassier A.; Chakrapani A.; Chien Y.-H.; Couce M.L.; de Laet C.; de Lonlay P.; de Meirleir L.; Dionisi-Vici C.; Dobbelaere D.; Garcia-Cazorla A.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; H?berle J.; WUH-LIANG HWU; Ioannou H.; Lachmann R.; Langereis E.; Teles E.L.; L?pez-Laso E.; Matsumoto S.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Ruiz-Gomez A.; Sarajlija A.; Summar M.L.; Thompson N.; Vara R.; Pinera I.V.; Williams M.; Zielonka M.; Additional individual contributors of the E-IMD consortium |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?
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Chien Y.-H.;Lee N.-C.;Wuh-Liang Hwu;Fang J.-Y.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU; Fang J.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
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Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
SHOX deficiency in short Taiwanese children: A single-center experience
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Tung Y.-C.;Lee N.-C.;Wuh-Liang Hwu;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; WUH-LIANG HWU; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Biparental inheritance of mitochondrial DNA in humans
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Luo S.;Valencia C.A.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Wuh-Liang Hwu;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; WUH-LIANG HWU; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Results of fabry disease screening in male pre-end stage renal disease patients with unknown etiology found through the platform of a chronic kidney disease education program in a Northern Taiwan medical center
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Lin C.-J.;Chien Y.-H.;Lai T.-S.;Shih H.-M.;Chen Y.-C.;Pan C.-F.;Chen H.-H.;Wuh-Liang Hwu;Wu C.-J.; Lin C.-J.; Chien Y.-H.; Lai T.-S.; Shih H.-M.; Chen Y.-C.; Pan C.-F.; Chen H.-H.; WUH-LIANG HWU; Wu C.-J. |
