| 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. |
| 臺大學術典藏 |
2020-12-09T01:38:10Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; NI-CHUNG LEE; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:10Z |
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan
|
Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:10Z |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Chen S.-J.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Lin C.-H.; Chen S.-J.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:09Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Ni-Chung Lee; Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:09Z |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
|
Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; 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.; Additional individual contributors from E-IMD; Djordjevic M.; Schiff M.; Pe?a-Quintana L.; M?hlhausen C.; de Meirleir L.; Matsumoto S.; De Laet C.; 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.; Lachmann R.; Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Bari? I.;Lund A.M.;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.;Lachmann R.;De Laet C.;Matsumoto S.;De Meirleir L.;M?Hlhausen C.;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.;Ortega D.G.;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.;Additional Individual Contributors From E-Imd; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M. |
| 臺大學術典藏 |
2020-12-09T01:38:08Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Chien Y.-H.; NI-CHUNG LEE; Lee W.-T.; Hwu W.-L.; Weng W.-C.;Hsu Y.-K.;Chang F.-M.;Lin C.-Y.;Hwu W.-L.;Lee W.-T.;Ni-Chung Lee;Chien Y.-H.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:08Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
Ni-Chung Lee;Hsu W.-C.;Chang L.-M.;Chen Y.-C.;Huang P.-T.;Chien C.-C.;Chien Y.-H.;Chen C.-L.;Hwu W.-L.;Lee P.-L.; NI-CHUNG LEE; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; Hwu W.-L.; Lee P.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:08Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; Hwu W.-L.; Chien Y.-H.; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; NI-CHUNG LEE; Fung C.-W.; Chung B.H.-Y.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P. |
| 臺大學術典藏 |
2020-12-09T01:38:08Z |
Clinical features of Pompe disease with motor neuronopathy
|
Tsai L.-K.;Hwu W.-L.;Ni-Chung Lee;Huang P.-H.;Chien Y.-H.; Tsai L.-K.; Hwu W.-L.; NI-CHUNG LEE; Huang P.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:07Z |
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene
|
Fan S.-P.; NI-CHUNG LEE; Lin C.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:07Z |
Diversity in heritable disorders of connective tissue at a single center
|
Hsu R.-H.;Chien Y.-H.;Hwu W.-L.;Ni-Chung Lee; Hsu R.-H.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:07Z |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Liu M.-Y.;Lee C.-T.;Ni-Chung Lee;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu M.-Y.; Lee C.-T.; NI-CHUNG LEE; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
Chien Y.-H.;Tsai W.-H.;Chang C.-L.;Chiu P.-C.;Chou Y.-Y.;Tsai F.-J.;Wong S.-L.;Ni-Chung Lee;Hwu W.-L.; Chien Y.-H.; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; NI-CHUNG LEE; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
|
Chien Y.-H.;Ni-Chung Lee;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
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Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K. |
| 臺大學術典藏 |
2020-12-09T01:38:06Z |
Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome
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Fang W.-Q.;Hwu W.-L.;Chien Y.-H.;Yang S.-Y.;Chieh J.-J.;Chang L.-M.;Huang A.-C.;Ni-Chung Lee;Chiu M.-J.; Fang W.-Q.; Hwu W.-L.; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; NI-CHUNG LEE; Chiu M.-J. |
| 臺大學術典藏 |
2020-12-09T01:38:05Z |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
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Chen S.-J.;Lee B.-C.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Lin C.-H.; Chen S.-J.; Lee B.-C.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:05Z |
Novel Phenotype of 6p25 Deletion Syndrome Presenting Juvenile Parkinsonism and Brain Calcification
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Fan S.-P.;Ni-Chung Lee;Lin C.-H.; Fan S.-P.; NI-CHUNG LEE; Lin C.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:05Z |
The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan
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Chiang S.-C.;Chien Y.-H.;Chang K.-L.;Ni-Chung Lee;Hwu W.-L.; Chiang S.-C.; Chien Y.-H.; Chang K.-L.; NI-CHUNG LEE; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:04Z |
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome
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Kao H.-J.;Chiang H.-L.;Chen H.-H.;Fan P.-C.;Tu Y.-F.;Chou Y.-Y.;Hwu W.-L.;Lin C.-L.;Kwok P.-Y.;Ni-Chung Lee; Kao H.-J.; Chiang H.-L.; Chen H.-H.; Fan P.-C.; Tu Y.-F.; Chou Y.-Y.; Hwu W.-L.; Lin C.-L.; Kwok P.-Y.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:04Z |
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
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Weng H.-L.;Yang F.-J.;Chien Y.-H.;Chen P.-R.;Lin Z.-X.;Ni-Chung Lee;Hwu W.-L.; Weng H.-L.; Yang F.-J.; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; NI-CHUNG LEE; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:04Z |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
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Kuo C.-W.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Hung M.-Z.;Lin I.-L.;Lai F.;Ni-Chung Lee; Kuo C.-W.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; NI-CHUNG LEE |
| 臺大學術典藏 |
2020-12-09T01:38:03Z |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
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Chen P.-R.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Weng H.-L.; Yang F.-J.; Weng H.-L.;Yang F.-J.;Chen P.-R.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H. |
| 臺大學術典藏 |
2020-12-09T01:38:03Z |
Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
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Ni-Chung Lee;Peng W.-H.;Tsai L.-K.;Lu Y.-H.;Wang H.-C.;Shih Y.-C.;Pung Z.-X.;Hu H.-Y.;Hwu W.-L.;Tseng W.-Y.I.;Chien Y.-H.; NI-CHUNG LEE; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H. |
| 臺大學術典藏 |
2019-10-19T01:46:51Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith-Wiedemann spectrum
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NI-CHUNG LEE; NI-CHUNG LEE;WEN-YU TSAI;SHIH-YAO LIU;Jong, Yiin-Jeng;Su, Yi-Ning;Chen, Ming;HUEY-LING CHEN;YUNG-LI YANG;KUAN-TING KUO;MU-ZON WU;WEN-HSI LIN;JIN-CHUNG SHIH;WUH-LIANG HWU;YI-CHING TUNG;CHENG-TING LEE; CHENG-TING LEE; YI-CHING TUNG; WUH-LIANG ??HWU; JIN-CHUNG SHIH; WEN-HSI LIN; MU-ZON WU; KUAN-TING KUO; YUNG-LI YANG; HUEY-LING CHEN; Chen, Ming; Su, Yi-Ning; Jong, Yiin-Jeng; SHIH-YAO LIU; WEN-YU TSAI |
