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	2020-12-09T01:38:42Z	Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.	Hwu W.L.;Chien Y.H.;Tang N.L.;Law L.K.;Lin C.Y.;Ni-Chung Lee; Hwu W.L.; Chien Y.H.; Tang N.L.; Law L.K.; Lin C.Y.; NI-CHUNG LEE
臺大學術典藏	2020-12-09T01:38:42Z	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	Chien Y.H.;Ni-Chung Lee;Tsai L.K.;Huang A.C.;Peng S.F.;Chen S.J.;Hwu W.L.; Chien Y.H.; NI-CHUNG LEE; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2020-12-09T01:38:41Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Ni-Chung Lee;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; NI-CHUNG LEE; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:40Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Ni-Chung Lee;Hwu W.-L.;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; NI-CHUNG LEE; Hwu W.-L.; Fan P.-C.; Lee W.-T.
臺大學術典藏	2020-12-09T01:38:40Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Hwu W.-L.;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Ni-Chung Lee; Yen T.-Y.; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; NI-CHUNG LEE
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.

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