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Showing items 156-180 of 226 (10 Page(s) Totally)
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Institution	Date	Title	Author
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.

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