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

About TAIR
	About TAIR

Browse By
	Institution
	Author
	Title
	Date
	Statistics Chart
	Institution Facts
	Trend

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

Copyright
	Publisher & Journal Policy
	TAIR Copyright Conference Minutes

Related Links
	機構典藏計畫網站
	ROAR
	OpenDOAR
	SHERPA
	OAIster
	JAIRO
	Ira
	DSPACE
	RWWR
	臺大學術典藏NTU Scholars

"hwu w l"

Return to Browse by Author
Sorting by Title	Sort by Date

Showing items 351-400 of 770 (16 Page(s) Totally)
<< < 3 4 5 6 7 8 9 10 11 12 > >>
View [10|25|50] records per page

Institution	Date	Title	Author
臺大學術典藏	2020-12-09T01:38:40Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.;Chen H.-L.;Ni Y.-H.;Ni-Chung Lee;Chien Y.-H.;Hwu W.-L.;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; NI-CHUNG LEE; Chien Y.-H.; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:39Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Chien Y.H.; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:39Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	NI-CHUNG LEE; Dimmock D.; Hwu W.-L.; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-09T01:38:39Z	Screening for pompe disease and fabry disease	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:39Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen C.-A.; Chiu S.-N.; Chien Y.-H.; NI-CHUNG LEE; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chen C.-A.;Chiu S.-N.;Chien Y.-H.;Ni-Chung Lee;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.
臺大學術典藏	2020-12-09T01:38:38Z	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome	Chiang P.-W.; NI-CHUNG LEE; Chien N.; Hwu W.-L.; Spector E.; Tsai A.C.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:38Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	NI-CHUNG LEE; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:37Z	Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding	Ni-Chung Lee;Chang S.-P.;Chang C.-S.;Chen C.-H.;Lee D.-J.;Lin C.-C.;Hwu W.-L.;Ming C.; NI-CHUNG LEE; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; Hwu W.-L.; Ming C.
臺大學術典藏	2020-12-09T01:38:37Z	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Ni-Chung Lee;Huang C.H.;Hwu W.L.;Chien Y.H.;Chang Y.Y.;Chen C.H.;Ko T.M.; NI-CHUNG LEE; Huang C.H.; Hwu W.L.; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏	2020-12-09T01:38:37Z	Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏	2020-12-09T01:38:36Z	CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency	Chang K.-L.;Hwu W.-L.;Yeh H.-Y.;Ni-Chung Lee;Chien Y.-H.; Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:36Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Chen P.W.;Hwu W.L.;Ho M.C.;Ni-Chung Lee;Chien Y.H.;Ni Y.H.;Lee P.H.; Chen P.W.; Hwu W.L.; Ho M.C.; NI-CHUNG LEE; Chien Y.H.; Ni Y.H.; Lee P.H.
臺大學術典藏	2020-12-09T01:38:36Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Hwu W.-L.;Niu D.-M.;Ni-Chung Lee;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P.
臺大學術典藏	2020-12-09T01:38:36Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; NI-CHUNG LEE; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:35Z	Newborn screening for neuropathic lysosomal storage disorders	Hwu W.-L.;Chien Y.-H.;Ni-Chung Lee; Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:35Z	Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan	Hung P.-Y.; Niu D.-M.; Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Ni-Chung Lee;Hwu W.-L.;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE; Hwu W.-L.; Lin J.-L.
臺大學術典藏	2020-12-09T01:38:35Z	Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program	Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Ni-Chung Lee;Akmaev V.R.;Scholl T.;Hwu W.-L.; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; NI-CHUNG LEE; Akmaev V.R.; Scholl T.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:35Z	FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome	Lin W.-D.;Chou I.-C.;Ni-Chung Lee;Wang C.-H.;Hwu W.-L.;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; NI-CHUNG LEE; Wang C.-H.; Hwu W.-L.; Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.
臺大學術典藏	2020-12-09T01:38:35Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	NI-CHUNG LEE; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L.; Ni-Chung Lee;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Chien Y.-H.;Ni-Chung Lee;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease	Zhang X.K.; Chiang S.-C.; NI-CHUNG LEE; Keutzer J.; Hwu W.-L.; Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Ni-Chung Lee;Keutzer J.;Hwu W.-L.; Chien Y.-H.; Olivova P.
臺大學術典藏	2020-12-09T01:38:34Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Ni-Chung Lee;Tsai F.-J.;Chao M.-C.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:34Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Ni-Chung Lee;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	Rapid progressive course of later-onset Pompe disease in Chinese patients	Yang C.-C.;Chien Y.-H.;Ni-Chung Lee;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Hwu W.-L.; Yang C.-C.; Chien Y.-H.; NI-CHUNG LEE; Chiang S.-C.; Lin S.-P.; Kuo Y.-T.; Chen S.-S.; Jong Y.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:33Z	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.;Ni-Chung Lee;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2020-12-09T01:38:33Z	Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia	Wei S.-H.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Lee W.-T.; Wei S.-H.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Lee W.-T.
臺大學術典藏	2020-12-09T01:38:33Z	Congenital hypopituitarism due to POU1F1 gene mutation	Ni-Chung Lee;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; NI-CHUNG LEE; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:32Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	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.; Tsao P.-N.; Chen Y.-T.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:32Z	Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.	Chien Y.H.; NI-CHUNG LEE; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:32Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chen S.-T.;Su Y.-N.;Ni Y.-H.;Hwu W.-L.;Ni-Chung Lee;Chien Y.-H.;Chang C.-C.;Chen H.-L.;Chang M.-H.; Chen S.-T.; Su Y.-N.; Ni Y.-H.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏	2020-12-09T01:38:31Z	Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program	Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Hsu L.-W.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:31Z	An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery	NI-CHUNG LEE; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:31Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; NI-CHUNG LEE; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-12-09T01:38:31Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Chien Y.-H.; NI-CHUNG LEE; Huang P.-H.; Lee W.-T.; Thurberg B.L.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:30Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.
臺大學術典藏	2020-12-09T01:38:30Z	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.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:30Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:29Z	Promising outcomes in glutaric aciduria type i patients detected by newborn screening	Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:29Z	Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests	Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:29Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; NI-CHUNG LEE; Hwu W.-L.; Chien Y.-H.; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-09T01:38:29Z	AADC deficiency. Occurring in humans, modeled in rodents.	Hwu W.-L.; NI-CHUNG LEE; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2020-12-09T01:38:28Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; Chien Y.-H.; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:28Z	Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency	NI-CHUNG LEE; Shieh Y.-D.; Chien Y.-H.; Tzen K.-Y.; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:27Z	Pompe disease: Early diagnosis and early treatment make a difference	Chien Y.-H.; Hwu W.-L.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:27Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Chien Y.-H.; Shieh Y.-D.; Yang C.-Y.; NI-CHUNG LEE; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:27Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; NI-CHUNG LEE; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:26Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Wang S.-F.; Chiang S.-C.; Hsu L.-W.
臺大學術典藏	2020-12-09T01:38:26Z	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.; NI-CHUNG LEE; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-09T01:38:26Z	Outcome of early-treated type III Gaucher disease patients	NI-CHUNG LEE; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L.

Showing items 351-400 of 770 (16 Page(s) Totally)
<< < 3 4 5 6 7 8 9 10 11 12 > >>
View [10|25|50] records per page

	English \| 正體中文 \| 简体中文 \| Total items :2823024
	Visitors : 30248893 Online Users : 754 Project Commissioned by the Ministry of Education Project Executed by National Taiwan University Library