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| 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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?
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 |
| 臺大學術典藏 |
2019-10-15T01:56:03Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
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PO-HUANG LEE; PO-HUANG LEE;YEN-HSUAN NI;YIN-HSIU CHIEN;NI-CHUNG LEE;MING-CHIH HO;WUH-LIANG ??HWU;Chen, P W; Chen, P W; WUH-LIANG ??HWU; MING-CHIH HO; NI-CHUNG LEE; YIN-HSIU CHIEN; YEN-HSUAN NI |
| 臺大學術典藏 |
2019-10-14T05:56:44Z |
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Niu, Dau-Ming;MING-CHIH HO;REY-HENG HU;Liu, Chin-Su;Lin, Shuan-Pei;NI-CHUNG LEE;WUH-LIANG HWU;Yang, Chia-Feng;Lin, Niang-Cheng;Chiang, Chuan-Chi;Lai, Chih-Jou;Ho, Huey-Jane;Liao, Hsuan-Chieh;Lin, Hsiang-Yu;YIN-HSIU CHIEN;Chu, Tzu-Hung; Chu, Tzu-Hung; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU; NI-CHUNG LEE; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Ming |
| 臺大學術典藏 |
2019-10-03T05:41:06Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
WUH-LIANG HWU;WEN-YIH ISAAC TSENG;Peng, Shinn Forng;Hsu, Yung Chin;NI-CHUNG LEE;YIN-HSIU CHIEN;Tseng, Chih Hsien; Tseng, Chih Hsien; YIN-HSIU CHIEN; NI-CHUNG LEE; Hsu, Yung Chin; Peng, Shinn Forng; WEN-YIH ISAAC TSENG; WUH-LIANG ??HWU |
| 臺大學術典藏 |
2019-09-16T05:37:57Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
WUH-LIANG ??HWU;YI-CHEN CHEN;PEI-LIN LEE;CHI-LING CHEN;YIN-HSIU CHIEN;Chien, Chun-Chin;Huang, Po-Tsang;Chang, Lih-Maan;Hsu, Wei-Chung;NI-CHUNG LEE; NI-CHUNG LEE; Hsu, Wei-Chung; Chang, Lih-Maan; YI-CHEN CHEN; Huang, Po-Tsang; Chien, Chun-Chin; YIN-HSIU CHIEN; CHI-LING CHEN; WUH-LIANG ??HWU; PEI-LIN LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
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NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
| 臺大學術典藏 |
2019-09-09T00:55:27Z |
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene
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Fan, Sung Pin;CHIN-HSIEN LIN;NI-CHUNG LEE; NI-CHUNG LEE; CHIN-HSIEN LIN; Fan, Sung Pin |
| 臺大學術典藏 |
2018-09-10T18:02:45Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
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Yin-Ting Zeng and Wuh-Liang Hwu and Pao-Chuan Torng and Ni-Chung Lee and Jeng-Yi Shieh and Lu Lu and Yin-Hsiu Chien; NI-CHUNG LEE; JENG-YI SHIEH; LU LU; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T15:35:08Z |
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia
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Tsai, Tzu-Hsun;Wang, Gen-shuh;PEI-HSIN HUANG;Ma, Hwong-wen;Huang, Pei-Hsin;Lee, Ni-Chung;TZU-HSUN TSAI;Chen, Yen-chuan;Fan, Chihhao;Hsiao, Chia-Chieh;NI-CHUNG LEE;Tsai, Tzu-Hsun;Huang, Pei-Hsin;Lee, Ni-Chung;Hsiao, Chia-Chieh;Tsai, Tzu-Hsun;Huang, Pei-Hsin;Lee, Ni-Chung;Hsiao, Chia-Chieh; Hsiao, Chia-Chieh; Lee, Ni-Chung; Huang, Pei-Hsin; Tsai, Tzu-Hsun; Hsiao, Chia-Chieh; Lee, Ni-Chung; Huang, Pei-Hsin; Tsai, Tzu-Hsun; NI-CHUNG LEE; Hsiao, Chia-Chieh; Fan, Chihhao; Chen, Yen-chuan; TZU-HSUN TSAI; Lee, Ni-Chung; Huang, Pei-Hsin; Ma, Hwong-wen; PEI-HSIN HUANG; Wang, Gen-shuh; Tsai, Tzu-Hsun |
| 臺大學術典藏 |
2018-09-10T15:34:03Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
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YIN-HSIU CHIEN; Tsai, Fuu-Jen; WUH-LIANG HWU; Tsai, Wen-Hui; Chien, Yin-Hsiu; Lee, Ni-Chung; Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; STEVEN SHINN-FORNG PENG; Peng, S.S.-F. and Hwu, W.-L. and Lee, N.-C. and Tsai, F.-J. and Tsai, W.-H. and Chien, Y.-H.; Peng, Steven Shinn-Forng;Hwu, Wuh-Liang;Lee, Ni-Chung;Tsai, Fuu-Jen;Tsai, Wen-Hui;Chien, Yin-Hsiu; 胡務亮;彭信逢;李妮鍾;簡穎秀; NI-CHUNG LEE |
| 臺大學術典藏 |
2018-09-10T15:26:42Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
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Wu, Chao-Szu; Lee, Wang-Tso; Lee, Wang-Tso; WEN-CHIN WENG; YIN-HSIU CHIEN; Weng, Wen-Chin; Weng, Wen-Chin; Fan, Pi-Chuan; WUH-LIANG HWU; Fan, Pi-Chuan; Chien, Yin-Hsiu; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hwu, Wuh-Liang; Hung, Kun-Long; Hung, Kun-Long; Huang, Chao-Ching; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Chu, Shao-Yin; Wang, Tzu-Jou; Wang, Tzu-Jou; Lu, Chien-Jung; Lu, Chien-Jung; Lee, Pei-Lin; Lee, Pei-Lin; Wu, Chao-Szu; PEI-LIN LEE; Chai, Huei-Ming; Yang, Chih-Chao; Hsiue, H.-C. and Lee, N.-C. and Tsai, H.-B. and Yang, C.-C. and Wu, C.-S. and Lee, W.-T. and Weng, W.-C. and Fan, P.-C. and Chien, Y.-H. and Hwu, W.-L. and Hung, K.-L. and Huang, C.-C. and Chen, C.-H. and Lin, S.-J. and Chu, S.-Y. and Wang, T.-J. and Lu, C.-J. and Lee, P.-L.; Hsiue, Han-Chung;Lee, Ni-Chung;Tsai, Hung-Bin;Yang, Chih-Chao;Wu, Chao-Szu;Lee, Wang-Tso;Weng, Wen-Chin;Fan, Pi-Chuan;Chien, Yin-Hsiu;Hwu, Wuh-Liang;Hung, Kun-Long;Huang, Chao-Ching;Chen, Chih-Hung;Lin, Shio-Jean;Chu, Shao-Yin;Wang, Tzu-Jou;Lu, Chien-Jung;Lee, Pei-Lin; 胡務亮;楊智超;李佩玲;范碧娟;李旺祚;李妮鍾;薛涵中;簡穎秀;翁妏謹;蔡宏斌; 胡務亮;楊智超;李佩玲;范碧娟;李旺祚;李妮鍾;薛涵中;簡穎秀;翁妏謹;蔡宏斌; Hsiue, Han-Chung; NI-CHUNG LEE; Hsiue, Han-Chung; Lee, Ni-Chung; PI-CHUAN FAN; Lee, Ni-Chung; Tsai, Hung-Bin; WANG-TSO LEE; Tsai, Hung-Bin; HUNG-BIN TSAI; Yang, Chih-Chao |
| 臺大學術典藏 |
2018-09-10T15:26:41Z |
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
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Chien, Yin-Hsiu;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Shieh, Jeng-Yi;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Hwu, Wuh-Liang; Yin-Hsiu Chien and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Jeng-Yi Shieh and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Wuh-Liang Hwu; 胡務亮;許巍鐘;陳俊安;李妮鍾;簡穎秀;謝正宜; CHUN-AN CHEN; Chien, Yin-Hsiu; Lee, Ni-Chung; NI-CHUNG LEE; Chen, Chun-An; JENG-YI SHIEH; TZU-HSUN TSAI; Tsai, Fuu-Jen; YIN-HSIU CHIEN; Tsai, Wen-Hui; Shieh, Jeng-Yi; WUH-LIANG HWU; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T15:02:31Z |
Outcome of early-treated type III Gaucher disease patients
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Lee, Ni-Chung;Chien, Yin-Hsiu;Wong, Siew-Lee;Sheen, Jiunn-Ming;Tsai, Fuu-Jen;Peng, Shinn-Forng;Leung, Joseph Hang;Chao, Mei-Chyn;Shun, Chia-Tung;Hwu, Wuh-Liang; Lee, N.-C. and Chien, Y.-H. and Wong, S.-L. and Sheen, J.-M. and Tsai, F.-J. and Peng, S.-F. and Leung, J.H. and Chao, M.-C. and Shun, C.-T. and Hwu, W.-L.; 胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟; Lee, Ni-Chung; NI-CHUNG LEE; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Wong, Siew-Lee; WUH-LIANG HWU; Chang, An-Chen; CHIA-TUNG SHUN; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; ?^?H?{ |
| 臺大學術典藏 |
2018-09-10T14:50:28Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
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Lin, Chia-Hsuan;Chien, Yin-Hsiu;Peng, Shinn-Forng;Tsai, Wen-Yu;Tung, Yi-Ching;Lee, Cheng-Ting;Chien, Chun-Ching;Hwu, Wuh-Liang;Lee, Ni-Chung; Lin, C.-H. and Chien, Y.-H. and Peng, S.-F. and Tsai, W.-Y. and Tung, Y.-C. and Lee, C.-T. and Chien, C.-C. and Hwu, W.-L. and Lee, N.-C.; 蔡文友;胡務亮;童怡靖;彭信逢;李正婷;李妮鍾;簡穎秀; NI-CHUNG LEE; Lin, Chia-Hsuan; YI-CHING TUNG; Chien, Yin-Hsiu; CHENG-TING LEE; Peng, Shinn-Forng; YIN-HSIU CHIEN; Tsai, Wen-Yu; Tung, Yi-Ching; WUH-LIANG HWU; Lee, Cheng-Ting; WEN-YU TSAI; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T14:50:14Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
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胡務亮;吳恩婷;蔡宜蓉;黃書健;李妮鍾;簡穎秀;曹永魁; Tsai, I.-J. and Hwu, W.-L. and Huang, S.-C. and Lee, N.-C. and Wu, E.-T. and Chien, Y.-H. and Tsau, Y.-K.; Tsai, I-Jung;Hwu, Wuh-Liang;Huang, Shu-Chien;Lee, Ni-Chung;Wu, En-Ting;Chien, Yin-Hsiu;Tsau, Yong-Kwei; Tsai, I-Jung; NI-CHUNG LEE; Hwu, Wuh-Liang; YONG-KWEI TSAU; Huang, Shu-Chien; I-JUNG TSAI; YIN-HSIU CHIEN; Lee, Ni-Chung; SHU-CHIEN HUANG; Wu, En-Ting; Chien, Yin-Hsiu; WUH-LIANG HWU; Tsau, Yong-Kwei; EN-TING WU |
| 臺大學術典藏 |
2018-09-10T09:40:30Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
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Lee, Chee-Seng;Chien, Yin-Hsiu;Peng, Shinn-Forng;Cheng, Pin-Wen;Chang, Lih-Maan;Huang, Ai-Chu;Hwu, Wuh-Liang;Lee, Ni-Chung; Lee, C.-S. and Chien, Y.-H. and Peng, S.-F. and Cheng, P.-W. and Chang, L.-M. and Huang, A.-C. and Hwu, W.-L. and Lee, N.-C.; 胡務亮 ;彭信逢 ;李妮鍾 ;黃愛珠 ;簡穎秀; NI-CHUNG LEE; Lee, Chee-Seng; YIN-HSIU CHIEN; Chien, Yin-Hsiu; WUH-LIANG HWU; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
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