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

"wuh liang hwu"

Return to Browse by Author
Sorting by Title	Sort by Date

Showing items 186-235 of 458 (10 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	2020-12-16T02:25:58Z	[Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency].	Song Y.Z.;Sheng J.S.;Ushikai M.;Wuh-Liang Hwu;Zhang C.H.;Kobayashi K.; Song Y.Z.; Sheng J.S.; Ushikai M.; WUH-LIANG HWU; Zhang C.H.; Kobayashi K.
臺大學術典藏	2020-12-16T02:25:58Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	Chien Y.-H.;Lee N.-C.;Wu S.-T.;Liou J.-J.;Chen H.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:58Z	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.;Wuh-Liang Hwu;Huang Y.-T.;Huang A.-C.;Wang S.-F.;Hu M.-H.;Chien Y.-H.; Hsieh C.-T.; WUH-LIANG HWU; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:58Z	Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein	Chiou Y.-W.;Wuh-Liang Hwu;Lee Y.-M.; Chiou Y.-W.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:57Z	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.;Wang C.-C.;Chiu S.-N.;Wu E.-T.;Chien Y.-H.;Wuh-Liang Hwu;Wang J.-K.;Wu M.-H.; Huang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; Chien Y.-H.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:57Z	Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders	Bodamer O.;De Jesus V.;Keutzer J.;Zhang K.;Wuh-Liang Hwu;M?Hl A.; Bodamer O.; De Jesus V.; Keutzer J.; Zhang K.; WUH-LIANG HWU; M?hl A.
臺大學術典藏	2020-12-16T02:25:57Z	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence	Ralston E.;Swaim B.;Czapiga M.;Wuh-Liang Hwu;Chien Y.-H.;Pittis M.G.;Bembi B.;Schwartz O.;Plotz P.;Raben N.; Ralston E.; Swaim B.; Czapiga M.; WUH-LIANG HWU; Chien Y.-H.; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.
臺大學術典藏	2020-12-16T02:25:57Z	Alglucosidase Alfa (Myozyme?) in Infants and Children with Rapidly Progressive Pompe Disease	Corzo D.;Byrne B.;Wuh-Liang Hwu;Leslie N.;Mandel H.;Nicolino M.; Corzo D.; Byrne B.; WUH-LIANG HWU; Leslie N.; Mandel H.; Nicolino M.
臺大學術典藏	2020-12-16T02:25:56Z	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients	Lin W.-D.;Lin S.-P.;Wang C.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-J.;Tsai Y.;Chen C.-P.;Tsai F.-J.; Lin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:56Z	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.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:56Z	Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II	Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:56Z	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.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Huang Y.-T.;Chiu P.-C.;Chang M.-H.; Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-16T02:25:55Z	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Huang S.-C.;Wu E.-T.;Chiu S.;Wuh-Liang Hwu;Wu M.-H.;Wang S.-S.; Huang S.-C.; Wu E.-T.; Chiu S.; WUH-LIANG HWU; Wu M.-H.; Wang S.-S.
臺大學術典藏	2020-12-16T02:25:55Z	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.;Weng W.-C.;Lee N.-C.;Wuh-Liang Hwu;Fan P.-C.;Lee W.-T.; Wang S.-B.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU; Fan P.-C.; Lee W.-T.
臺大學術典藏	2020-12-16T02:25:55Z	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Chen H.-L.;Wang R.;Chen H.-L.;Wuh-Liang Hwu;Jeng Y.-M.;Chang M.-H.;Ling V.; Chen H.-L.; Wang R.; Chen H.-L.; WUH-LIANG HWU; Jeng Y.-M.; Chang M.-H.; Ling V.
臺大學術典藏	2020-12-16T02:25:55Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.;Wuh-Liang Hwu;Chien Y.-H.;Wu M.-H.;Lin M.-T.;Tsao L.-Y.;Hsieh W.-S.;Lee N.-C.; Yen T.-Y.; WUH-LIANG HWU; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:54Z	Myopathy in Gaucher disease	Tsai L.-K.;Chien Y.-H.;Yang C.-C.;Wuh-Liang Hwu; Tsai L.-K.; Chien Y.-H.; Yang C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Web Services based newborn screening system with Support Vector Machines	Hsieh S.-H.;Hsieh S.-L.;Weng Y.-C.;Chien Y.-H.;Wang Z.;Chen P.-H.;Chang H.-Y.;Lai F.;Wuh-Liang Hwu; Hsieh S.-H.; Hsieh S.-L.; Weng Y.-C.; Chien Y.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.;Chien Y.-H.;Peng S.-F.;Huang A.-C.;Liu T.-T.;Wu A.S.-H.;Chen L.-C.;Hsu L.-W.;Tseng S.-C.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:54Z	Screening for pompe disease and fabry disease	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:53Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	Lee N.C.; Chang T.C.; Chien Y.H.; WUH-LIANG HWU; Chien Y.H.; Huang H.P.
臺大學術典藏	2020-12-16T02:25:53Z	Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation	Lee N.-C.;Dimmock D.;Wuh-Liang Hwu;Tang L.-Y.;Huang W.-C.;Chinault A.C.;Wong L.-J.C.; Lee N.-C.; Dimmock D.; WUH-LIANG HWU; Tang L.-Y.; Huang W.-C.; Chinault A.C.; Wong L.-J.C.
臺大學術典藏	2020-12-16T02:25:53Z	Fibrous dysplasia in a child with mitochondrial A8344G mutation	Chen S.-T.;Fan P.-C.;Wuh-Liang Hwu;Wu M.-H.; Chen S.-T.; Fan P.-C.; WUH-LIANG HWU; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:53Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Chen L.-R.; Chen C.-A.; Chiu S.-N.; Chien Y.-H.; Lee N.-C.; Lin M.-T.; WUH-LIANG HWU; Wang J.-K.; Wu M.-H.
臺大學術典藏	2020-12-16T02:25:52Z	Hyperammonemia and positive allopurinol test in hyperinsulinism- hyperammonemia syndrome: Taiwanese case report	Lin L.-C.; WUH-LIANG HWU; Yang R.-C.
臺大學術典藏	2020-12-16T02:25:52Z	Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy	Tsai L.-K.; Yang C.-C.; Ting C.-H.; Su Y.-N.; WUH-LIANG HWU; Li H.
臺大學術典藏	2020-12-16T02:25:52Z	Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.	Chien Y.H.;Wuh-Liang Hwu; Chien Y.H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:52Z	Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment	Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU; Hsu C.-J.; Wu C.-C.
臺大學術典藏	2020-12-16T02:25:52Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	Lee N.-C.;Marshall J.D.;Collin G.B.;Naggert J.K.;Chien Y.-H.;Tsai W.-Y.;Wuh-Liang Hwu; Lee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; Chien Y.-H.; Tsai W.-Y.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:51Z	Schizencephaly in LEOPARD Syndrome	Liang J.-S.; Chien Y.-H.; WUH-LIANG HWU; Yeh S.-J.; Peng S.-F.
臺大學術典藏	2020-12-16T02:25:51Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.;Chang H.-H.;Wuh-Liang Hwu;Lam C.-W.;Lee N.-C.;Chien Y.-H.; Hsiao H.-J.; Chang H.-H.; WUH-LIANG HWU; Lam C.-W.; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:51Z	Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome	Chiang P.-W.;Lee N.-C.;Chien N.;Wuh-Liang Hwu;Spector E.;Tsai A.C.-H.; Chiang P.-W.; Lee N.-C.; Chien N.; WUH-LIANG HWU; Spector E.; Tsai A.C.-H.
臺大學術典藏	2020-12-16T02:25:51Z	Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004	Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏	2020-12-16T02:25:50Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:50Z	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Lee N.C.; Huang C.H.; WUH-LIANG HWU; Chien Y.H.; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏	2020-12-16T02:25:50Z	Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;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.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; 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	2020-12-16T02:25:50Z	A longitudinal study of Taiwanese Sialidosis type 1: An insight into the concept of cherry-red spot myoclonus syndrome	Lai S.-C.; Chen R.-S.; Wu Chou Y.-H.; Chang H.-C.; Kao L.-Y.; Huang Y.-Z.; Weng Y.-H.; Chen J.-K.; WUH-LIANG HWU; Lu C.-S.
臺大學術典藏	2020-12-16T02:25:50Z	Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies	Kraus J.P.; Ha?ek J.; Ko?ich V.; Collard R.; Venezia S.; Jano??kov? B.; Wang J.; Stabler S.P.; Allen R.H.; Jakobs C.; Finn C.T.; Chien Y.-H.; WUH-LIANG HWU; Hegele R.A.; Mudd S.H.
臺大學術典藏	2020-12-16T02:25:49Z	Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: Molecular delineation by multicolor banding	Lee N.-C.; Chang S.-P.; Chang C.-S.; Chen C.-H.; Lee D.-J.; Lin C.-C.; WUH-LIANG HWU; Ming C.
臺大學術典藏	2020-12-16T02:25:49Z	Natural history of Niemann-Pick disease type C in a multicentre observational retrospective cohort study	Wraith J.E.; Guffon N.; Rohrbach M.; WUH-LIANG HWU; Korenke G.C.; Bembi B.; Luzy C.; Giorgino R.; Sedel F.
臺大學術典藏	2020-12-16T02:25:49Z	Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study	Pineda M.;Wraith J.E.;Mengel E.;Sedel F.;Wuh-Liang Hwu;Rohrbach M.;Bembi B.;Walterfang M.;Korenke G.C.;Marquardt T.;Luzy C.;Giorgino R.;Patterson M.C.; Pineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C.
臺大學術典藏	2020-12-16T02:25:49Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; 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.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:48Z	A validated disease severity scoring system for adults with type 1 Gaucher disease	Weinreb N.J.;Cappellini M.D.;Cox T.M.;Giannini E.H.;Grabowski G.A.;Wuh-Liang Hwu;Mankin H.;Martins A.M.;Sawyer C.;Vom Dahl S.;Yeh M.S.;Zimran A.; Weinreb N.J.; Cappellini M.D.; Cox T.M.; Giannini E.H.; Grabowski G.A.; WUH-LIANG HWU; Mankin H.; Martins A.M.; Sawyer C.; Vom Dahl S.; Yeh M.S.; Zimran A.
臺大學術典藏	2020-12-16T02:25:48Z	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.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;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.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:48Z	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan	Niu D.-M.;Chien Y.-H.;Chiang C.-C.;Ho H.-C.;Wuh-Liang Hwu;Kao S.-M.;Chiang S.-H.;Kao C.-H.;Liu T.-T.;Chiang H.;Hsiao K.-J.; Niu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏	2020-12-16T02:25:47Z	CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency	Chang K.-L.;Wuh-Liang Hwu;Yeh H.-Y.;Lee N.-C.;Chien Y.-H.; Chang K.-L.; WUH-LIANG HWU; Yeh H.-Y.; Lee N.-C.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:47Z	Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome	Hsu C.-J.; WUH-LIANG HWU; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Wu C.-C.;Lu Y.-C.;Chen P.-J.;Yeh P.-L.;Su Y.-N.;Wuh-Liang Hwu;Hsu C.-J.; Wu C.-C.
臺大學術典藏	2020-12-16T02:25:47Z	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Chen P.W.;Wuh-Liang Hwu;Ho M.C.;Lee N.C.;Chien Y.H.;Ni Y.H.;Lee P.H.; Chen P.W.; WUH-LIANG HWU; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H.
臺大學術典藏	2020-12-16T02:25:46Z	FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome	Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:46Z	Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program	Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Lee N.-C.;Akmaev V.R.;Scholl T.;Wuh-Liang Hwu; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; WUH-LIANG HWU

Showing items 186-235 of 458 (10 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 \| Total items :2875274
	Visitors : 54489744 Online Users : 1627 Project Commissioned by the Ministry of Education Project Executed by National Taiwan University Library