| 臺大學術典藏 |
2020-12-16T02:25:15Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Liu S.-Y.;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:15Z |
Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan
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Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Li M.-H.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Li M.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:15Z |
Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial
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Tai C.-H.; Chien Y.-H.;Lee N.-C.;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tseng S.-H.; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)
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Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Management of Leigh syndrome: Current status and new insights
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Chen L.;Cui Y.;Jiang D.;Ma C.Y.;Tse H.-F.;Wuh-Liang Hwu;Lian Q.; Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU; Lian Q. |
| 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
|
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. |
| 臺大學術典藏 |
2020-12-16T02:25:11Z |
Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease
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Chiang S.-C.;Chen P.-W.;Wuh-Liang Hwu;Lee A.-J.;Chen L.-C.;Lee N.-C.;Chiou L.-Y.;Chien Y.-H.; Chiang S.-C.; Chen P.-W.; WUH-LIANG HWU; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
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Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—A successful strategy for clinical research of rare diseases
|
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.;Mew N.A.;Batshaw M.L.;Baumgartner M.R.;Mccandless S.E.;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.;Lawrence Merritt J.;Ii, Nagamani S.C.S.;Schulze A.;Stricker T.;Tuchman M.;Waisbren S.;Weisfeldadams J.;Wong D.;Yudkoff M.;Arnoux J.;BariĆI.;Bosch A.M.;Chabrol B.;Chakrapani A.;Cort?Ssaladefont E.;Couce M.L.;Eyskens F.;De Laet C.;De Meirleir L.;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.;Sykutcegielska 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.; Mew N.A.; Batshaw M.L.; Baumgartner M.R.; McCandless S.E.; 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.; Lawrence Merritt J.; II, Nagamani S.C.S.; Schulze A.; Stricker T.; Tuchman M.; Waisbren S.; WeisfeldAdams J.; Wong D.; Yudkoff M.; Arnoux J.; Barić I.; Bosch A.M.; Chabrol B.; Chakrapani A.; Cort?sSaladefont E.; Couce M.L.; Eyskens F.; de Laet C.; de Meirleir L.; 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.; SykutCegielska J.; Walter J.H.; Williams M.; Zeman J.; Additional individual contributors of the UCDC; the E-IMD consortium |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
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Lee C.-T.;Tung Y.-C.;Wuh-Liang Hwu;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; Tung Y.-C.; WUH-LIANG HWU; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population
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Lee N.-C.; Huang T.-M.; Chou S.-P.; Ho H.-C.; Chang I.-F.; WUH-LIANG HWU; Chien Y.-H.; Hsu R.-H.;Chien Y.-H.;Wuh-Liang Hwu;Chang I.-F.;Ho H.-C.;Chou S.-P.;Huang T.-M.;Lee N.-C.; Hsu R.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes
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Abdenur J.E.; Benke P.J.; Taft R.J.; WUH-LIANG HWU; Simon M.T.;Eftekharian S.S.;Stover A.E.;Osborne A.F.;Braffman B.H.;Chang R.C.;Wang R.Y.;Steenari M.R.;Tang S.;Wuh-Liang Hwu;Taft R.J.;Benke P.J.;Abdenur J.E.; Simon M.T.; Eftekharian S.S.; Stover A.E.; Osborne A.F.; Braffman B.H.; Chang R.C.; Wang R.Y.; Steenari M.R.; Tang S. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Congenital generalized lipodystrophy in Taiwan
|
Hsu R.-H.;Lin W.-D.;Chao M.-C.;Hsiao H.-P.;Wong S.-L.;Chiu P.-C.;Chu S.-Y.;Ke Y.-Y.;Lau B.-H.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:09Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
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Ho S.-Y.;Chien Y.-H.;Tsai L.-K.;Muramatsu S.-I.;Wuh-Liang Hwu;Liou H.-H.;Lee N.-C.; Ho S.-Y.; Chien Y.-H.; Tsai L.-K.; Muramatsu S.-I.; WUH-LIANG HWU; Liou H.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:08Z |
Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments
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Luo S.;Alexander Valencia C.;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.; Alexander Valencia C.; 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 |
2020-12-16T02:25:08Z |
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
|
Wasserstein M.;Dionisi-Vici C.;Giugliani R.;Wuh-Liang Hwu;Lidove O.;Lukacs Z.;Mengel E.;Mistry P.K.;Schuchman E.H.;Mcgovern M.; Wasserstein M.; Dionisi-Vici C.; Giugliani R.; WUH-LIANG HWU; Lidove O.; Lukacs Z.; Mengel E.; Mistry P.K.; Schuchman E.H.; McGovern M. |
