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Showing items 146-170 of 226 (10 Page(s) Totally)
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Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:19Z	Gene therapy with modified U1 small nuclear RNA	Hwu W.-L.;Lee Y.-M.;Ni-Chung Lee; Hwu W.-L.; Lee Y.-M.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:19Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.;Hwu W.-L.;Torng P.-C.;Ni-Chung Lee;Shieh J.-Y.;Lu L.;Chien Y.-H.; Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; NI-CHUNG LEE; Shieh J.-Y.; Lu L.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:18Z	Reply to: “Peculiarities of progressive external ophthalmoplegia due to single mtDNA deletions”	Hsiao C.-C.;Ni-Chung Lee;Lin C.-W.;Tsai T.-H.; Hsiao C.-C.; NI-CHUNG LEE; Lin C.-W.; Tsai T.-H.
臺大學術典藏	2020-12-09T01:38:18Z	Newborn screening for severe combined immunodeficiency in Taiwan	Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; Hwu W.-L.; Chien Y.-H.;Yu H.-H.;Ni-Chung Lee;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.;Hwu W.-L.; Chien Y.-H.; Yu H.-H.; NI-CHUNG LEE; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.
臺大學術典藏	2020-12-09T01:38:18Z	Russell–Silver syndrome presenting with ambiguous genitalia	Chang I.-F.;Chien Y.-H.;Tsai W.-Y.;Ni-Chung Lee; Chang I.-F.; Chien Y.-H.; Tsai W.-Y.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:17Z	Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee;Li M.-H.; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Li M.-H.
臺大學術典藏	2020-12-09T01:38:17Z	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.;Ni-Chung Lee;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tseng S.-H.; Tai C.-H.; Muramatsu S.-I.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:17Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Ni-Chung Lee;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; NI-CHUNG LEE; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:16Z	A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice	Ni-Chung Lee;Hwu W.-L.;Muramatsu S.-I.;Falk D.J.;Byrne B.J.;Cheng C.-H.;Shih N.-C.;Chang K.-L.;Tsai L.-K.;Chien Y.-H.; NI-CHUNG LEE; Hwu W.-L.; 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	2020-12-09T01:38:16Z	Williams–Beuren syndrome in diverse populations	Gill A.D.; Boyle A.P.; Hu T.; Addissie Y.A.; Mok G.T.K.; Tekendo-Ngongang C.; Fieggen K.; Prijoles E.J.; Tanpaiboon P.; Honey E.; Luk H.-M.; Lo I.F.M.; Thong M.-K.; Muthukumarasamy P.; Jones K.L.; Belhassan K.; Ouldim K.; El Bouchikhi I.; Bouguenouch L.; Shukla A.; Girisha K.M.; Sirisena N.D.; Dissanayake V.H.W.; Paththinige C.S.; Mishra R.; Kisling M.S.; Ferreira C.R.; de Herreros M.B.; NI-CHUNG LEE; Jamuar S.S.; Lai A.; Tan E.S.; Ying Lim J.; Wen-Min C.B.; Gupta N.; Lotz-Esquivel S.; Badilla-Porras R.; Hussen D.F.; El Ruby M.O.; Ashaat E.A.; Patil S.J.; Dowsett L.; Eaton A.; Innes A.M.; Shotelersuk V.; Badoe ?.; Wonkam A.; Obregon M.G.; Chung B.H.Y.; Trubnykova M.; La Serna J.; Gallardo Jugo B.E.; Ch?vez Pastor M.; Abarca Barriga H.H.; Megarbane A.; Kozel B.A.; van Haelst M.M.; Stevenson R.E.; Summar M.; Adeyemo A.A.; Morris C.A.; Moretti-Ferreira D.; Linguraru M.G.; Muenke M.; Huckstadt V.; de Souza D.H.; Moresco A.; Porras A.R.; Kruszka P.; Kruszka P.;Porras A.R.;De Souza D.H.;Moresco A.;Huckstadt V.;Gill A.D.;Boyle A.P.;Hu T.;Addissie Y.A.;Mok G.T.K.;Tekendo-Ngongang C.;Fieggen K.;Prijoles E.J.;Tanpaiboon P.;Honey E.;Luk H.-M.;Lo I.F.M.;Thong M.-K.;Muthukumarasamy P.;Jones K.L.;Belhassan K.;Ouldim K.;El Bouchikhi I.;Bouguenouch L.;Shukla A.;Girisha K.M.;Sirisena N.D.;Dissanayake V.H.W.;Paththinige C.S.;Mishra R.;Kisling M.S.;Ferreira C.R.;De Herreros M.B.;Ni-Chung Lee;Jamuar S.S.;Lai A.;Tan E.S.;Ying Lim J.;Wen-Min C.B.;Gupta N.;Lotz-Esquivel S.;Badilla-Porras R.;Hussen D.F.;El Ruby M.O.;Ashaat E.A.;Patil S.J.;Dowsett L.;Eaton A.;Innes A.M.;Shotelersuk V.;Badoe ?.;Wonkam A.;Obregon M.G.;Chung B.H.Y.;Trubnykova M.;La Serna J.;Gallardo Jugo B.E.;Ch?Vez Pastor M.;Abarca Barriga H.H.;Megarbane A.;Kozel B.A.;Van Haelst M.M.;Stevenson R.E.;Summar M.;Adeyemo A.A.;Morris C.A.;Moretti-Ferreira D.;Linguraru M.G.;Muenke M.
臺大學術典藏	2020-12-09T01:38:15Z	Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?	Chien Y.-H.;Ni-Chung Lee;Hwu W.-L.;Fang J.-Y.; Chien Y.-H.; NI-CHUNG LEE; Hwu W.-L.; Fang J.-Y.
臺大學術典藏	2020-12-09T01:38:15Z	Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey	Mak C.C.;Leung G.K.;Mok G.T.;Yeung K.S.;Yang W.;Fung C.-W.;Chan S.H.;Lee S.-L.;Ni-Chung Lee;Pfundt R.;Lau Y.-L.;Chung B.H.; Mak C.C.; Leung G.K.; Mok G.T.; Yeung K.S.; Yang W.; Fung C.-W.; Chan S.H.; Lee S.-L.; NI-CHUNG LEE; Pfundt R.; Lau Y.-L.; Chung B.H.
臺大學術典藏	2020-12-09T01:38:15Z	SHOX deficiency in short Taiwanese children: A single-center experience	Tung Y.-C.;Ni-Chung Lee;Hwu W.-L.;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; NI-CHUNG LEE; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y.
臺大學術典藏	2020-12-09T01:38:14Z	Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum	Lee C.-T.;Tung Y.-C.;Hwu W.-L.;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.;Ni-Chung Lee; Lee C.-T.; Tung Y.-C.; Hwu W.-L.; 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.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:14Z	Biparental inheritance of mitochondrial DNA in humans	Luo S.;Valencia C.A.;Zhang J.;Ni-Chung Lee;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Fan P.-C.;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Valencia C.A.; Zhang J.; NI-CHUNG LEE; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏	2020-12-09T01:38:14Z	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	Chiang S.-C.;Chen P.-W.;Hwu W.-L.;Lee A.-J.;Chen L.-C.;Ni-Chung Lee;Chiou L.-Y.;Chien Y.-H.; Chiang S.-C.; Chen P.-W.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; NI-CHUNG LEE; Chiou L.-Y.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:13Z	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population	Hsu R.-H.;Chien Y.-H.;Hwu W.-L.;Chang I.-F.;Ho H.-C.;Chou S.-P.;Huang T.-M.;Ni-Chung Lee; Hsu R.-H.; Chien Y.-H.; Hwu W.-L.; Chang I.-F.; Ho H.-C.; Chou S.-P.; Huang T.-M.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:13Z	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.; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:13Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Ho S.-Y.; Chien Y.-H.; Tsai L.-K.; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:12Z	Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment	Saladelafont E.C.I.; Cazorla A.G.; Rubert L.; Burlina A.B.; Blasco-Alonso J.; H?berle J.; Baumgartner M.R.; Deleanu C.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Lund A.M.;Rizopoulos D.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee;Karall D.;Scholl-B?Rgi S.;De Laet C.;Matsumoto S.;De Meirleir L.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Gil-Ortega D.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Bari? I.;Additional Individual Contributors From E-Imd; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD
臺大學術典藏	2020-12-09T01:38:12Z	Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments	Luo S.; Alexander Valencia C.; Zhang J.; NI-CHUNG LEE; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; Chien Y.-H.; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏	2020-12-09T01:38:12Z	Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs	Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:11Z	Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency	Yu H.-H.;Hu T.-C.;Ni-Chung Lee;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Chiang B.-L.; Yu H.-H.; Hu T.-C.; NI-CHUNG LEE; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chiang B.-L.
臺大學術典藏	2020-12-09T01:38:11Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.;Chien Y.-H.;Ni-Chung Lee;Hsu Y.-C.;Peng S.-F.;Tseng W.-Y.I.;Hwu W.-L.; Tseng C.-H.; Chien Y.-H.; NI-CHUNG LEE; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:11Z	Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups	Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Ni-Chung Lee;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; NI-CHUNG LEE; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.

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