臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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機構	日期	題名	作者
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	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	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	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	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	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	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	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	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	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	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	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

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