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

???ui.leftmenu.abouttair???
	???ui.leftmenu.explanation???

???ui.leftmenu.bartitle???
	Repositories
	Author
	Title
	Date
	???ui.leftmenu.statisticschart???
	???ui.leftmenu.realtimefacts???
	???ui.leftmenu.trend???

???index.news???
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

???ui.leftmenu.copyrighttitle???
	???ui.leftmenu.copyrightpublisher???
	???ui.leftmenu.copyrightconference???

???ui.leftmenu.link???
	機構典藏計畫網站
	ROAR
	OpenDOAR
	SHERPA
	OAIster
	JAIRO
	Ira
	DSPACE
	RWWR
	臺大學術典藏NTU Scholars

"lee n c"???jsp.browse.items-by-author.description???

???jsp.browse.items-by-author.back???
???jsp.browse.items-by-author.order1???	???jsp.browse.items-by-author.order2???

Showing items 176-225 of 512 (11 Page(s) Totally)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
View [10|25|50] records per page

Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:16:36Z	Congenital malformations in newborns - A challenge unmet for decades	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:35Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:34Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F.
臺大學術典藏	2020-12-24T06:16:34Z	Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography	Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H.
臺大學術典藏	2020-12-24T06:16:33Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-24T06:16:32Z	Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease	Chiu M.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Huang A.-C.; Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; Chiu Y.-N.
臺大學術典藏	2020-12-24T06:16:31Z	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.; Lee N.-C.; Shieh J.-Y.; Lu L.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:31Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-24T06:16:29Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	YIN-HSIU CHIEN; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:28Z	Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan	Li M.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:27Z	Functional independence of Taiwanese children with Prader–Willi syndrome	Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P.
臺大學術典藏	2020-12-24T06:16:26Z	SHOX deficiency in short Taiwanese children: A single-center experience	Tsai W.-Y.; YIN-HSIU CHIEN; Lee C.-T.; Liu S.-Y.; Hwu W.-L.; Tung Y.-C.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:26Z	Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment?	YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Fang J.-Y.
臺大學術典藏	2020-12-24T06:16:25Z	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.; Lee N.-C.; Chiou L.-Y.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:24Z	Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency	Lee N.-C.; Liou H.-H.; Hwu W.-L.; Muramatsu S.-I.; Tsai L.-K.; YIN-HSIU CHIEN; Ho S.-Y.
臺大學術典藏	2020-12-24T06:16:24Z	Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population	Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:24Z	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.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:23Z	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.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏	2020-12-24T06:16:21Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Hwu W.-L.; Tseng W.-Y.I.; Peng S.-F.; Hsu Y.-C.; Tseng C.-H.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:20Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	YIN-HSIU CHIEN; Chen N.-Q.; Tsai W.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:20Z	A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:19Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F.
臺大學術典藏	2020-12-24T06:16:18Z	Clinical features of Pompe disease with motor neuronopathy	Tsai L.-K.; Hwu W.-L.; Lee N.-C.; Huang P.-H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:18Z	Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese	Fung J.L.-F.; Yeung K.-S.; Mak C.C.-Y.; Smeitink J.; Rodenburg R.J.T.; Chong S.-C.; Tsoi C.; Chan V.C.-M.; Kuo P.-L.; Hwu W.-L.; YIN-HSIU CHIEN; Quinzii C.M.; Lin S.-P.; Chou Y.-Y.; Kwong A.K.-Y.; Willis B.; Tse D.M.L.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.
臺大學術典藏	2020-12-24T06:16:17Z	Diversity in heritable disorders of connective tissue at a single center	Hsu R.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:17Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee P.-L.; Hwu W.-L.; Chen C.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:16Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2020-12-24T06:16:16Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Tan L.T.H.-C.; Lee C.-L.; Lin H.-Y.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; 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.
臺大學術典藏	2020-12-24T06:16:15Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	YIN-HSIU CHIEN; Lee N.-C.; 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	2020-12-24T06:16:15Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	YIN-HSIU CHIEN; Yang F.-J.; Weng H.-L.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Lee N.-C.; Lai F.; Lin I.-L.; Kuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Hung M.-Z.
臺大學術典藏	2020-12-24T06:16:14Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Lin C.-H.; Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chen S.-J.; Lee B.-C.
臺大學術典藏	2020-12-24T06:16:13Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.; 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.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:12Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Chen P.-R.; Hwu W.-L.; Yang F.-J.; Weng H.-L.
臺大學術典藏	2020-12-24T03:22:35Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; EN-TING WU; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T03:22:32Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.;Hwu W.-L.;Huang S.-C.;Lee N.-C.;En-Ting Wu;Chien Y.-H.;Tsau Y.-K.; Tsai I.-J.; Hwu W.-L.; Huang S.-C.; Lee N.-C.; EN-TING WU; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-24T02:03:55Z	Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia	Chang K.-C.; Lin P.-H.; Su Y.-N.; Peng S.S.-F.; Lee N.-C.; HUNG-CHIEH CHOU; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.
臺大學術典藏	2020-12-24T02:03:54Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; HUNG-CHIEH CHOU; Chen C.-Y.; Hsieh W.-S.
臺大學術典藏	2020-12-24T02:03:45Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Tsao P.-N.; HUNG-CHIEH CHOU; Chen T.-F.; Chen N.-Q.; Hsu C.; Chien Y.-H.; Hwu W.-L.; Wu E.-T.; Wu E.-T.;Hwu W.-L.;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Hung-Chieh Chou;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.;Lee N.-C.; 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.; Lee N.-C.
臺大學術典藏	2020-12-22T03:29:29Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; PO-NIEN TSAO; Chen Y.-T.
臺大學術典藏	2020-12-21T08:19:31Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Hwu W.-L.; I-JUNG TSAI; Lee W.-T.; Wu E.-T.; Huang P.-H.; Peng S.-F.; Weng W.-C.; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee N.-C.
臺大學術典藏	2020-12-21T08:19:26Z	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.;I-Jung Tsai;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.;Lee N.-C.; 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.; I-JUNG TSAI; 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.; Lee N.-C.
臺大學術典藏	2020-12-21T02:55:19Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Lee N.-C.; Hsieh W.-S.; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; MING-TAI LIN; Tsao L.-Y.
臺大學術典藏	2020-12-21T02:55:18Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wu M.-H.; Wang J.-K.; Hwu W.-L.; MING-TAI LIN; Lee N.-C.; Chien Y.-H.; Chiu S.-N.; Chen C.-A.; Chen L.-R.
臺大學術典藏	2020-12-21T02:55:15Z	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Chen C.-A.;Chien Y.-H.;Hwu W.-L.;Lee N.-C.;Wang J.-K.;Chen L.-R.;Lu C.-W.;Ming-Tai Lin;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; MING-TAI LIN; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2020-12-21T01:58:15Z	Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments	Huang T.; Atwal P.S.; Wong L.-J.; PI-CHUAN FAN; Hwu W.-L.; Chien Y.-H.; Luo S.;Alexander Valencia C.;Zhang J.;Lee N.-C.;Slone J.;Gui B.;Wang X.;Li Z.;Dell S.;Brown J.;Chen S.M.;Chien Y.-H.;Hwu W.-L.;Pi-Chuan Fan;Wong L.-J.;Atwal P.S.;Huang T.; Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.
臺大學術典藏	2020-12-21T01:58:11Z	De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome	Lee N.-C.; Kwok P.-Y.; Lin C.-L.; Hwu W.-L.; Kao H.-J.; Chiang H.-L.; Chen H.-H.; PI-CHUAN FAN; Tu Y.-F.; Chou Y.-Y.
臺大學術典藏	2020-12-21T01:08:41Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Weng W.-C.; JIA-FENG WU; Chien Y.-H.; Liu H.-M.; Tsai L.-P.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-18T06:22:27Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wang J.-K.; Hwu W.-L.; Chen L.-R.; Chen C.-A.; SHUENN-NAN CHIU; Chien Y.-H.; Lee N.-C.; Lin M.-T.; Chen L.-R.;Chen C.-A.;Shuenn-Nan Chiu;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Wu M.-H.

Showing items 176-225 of 512 (11 Page(s) Totally)
<< < 1 2 3 4 5 6 7 8 9 10 > >>
View [10|25|50] records per page

	English \| 正體中文 \| 简体中文 \| 2825920
	???header.visitor??? : 31400281 ???header.onlineuser??? : 1238 ???header.sponsordeclaration???