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

关于TAIR
	计画说明

浏览
	典藏机构
	作者
	题名
	日期
	统计图表
	机构即时统计
	学术趋势

消息
	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

著作权
	出版社及期刊政策查询
	TAIR著作权会议记录

相关连结
	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"的相关文件

回到依作者浏览
依题名排序	依日期排序

显示项目 221-245 / 458 (共19页)
<< < 4 5 6 7 8 9 10 11 12 13 > >>
每页显示[10|25|50]项目

机构	日期	题名	作者
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
臺大學術典藏	2020-12-16T02:25:46Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Wuh-Liang Hwu; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:45Z	Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry	Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:45Z	Newborn screening for neuropathic lysosomal storage disorders	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:45Z	Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency	Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Wuh-Liang Hwu;Lee W.T.;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N.
臺大學術典藏	2020-12-16T02:25:45Z	Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan	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.;Lee N.-C.;Wuh-Liang Hwu;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.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M.
臺大學術典藏	2020-12-16T02:25:44Z	Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia	Fern?Ndez-Irigoyen J.;Santamar?A E.;Chien Y.-H.;Wuh-Liang Hwu;Korman S.H.;Faghfoury H.;Schulze A.;Hoganson G.E.;Stabler S.P.;Allen R.H.;Wagner C.;Mudd S.H.;Corrales F.J.; Fern?ndez-Irigoyen J.; Santamar?a E.; Chien Y.-H.; WUH-LIANG HWU; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏	2020-12-16T02:25:44Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:44Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Lee N.-C.;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:44Z	Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy	Raben N.;Ralston E.;Chien Y.-H.;Baum R.;Schreiner C.;Wuh-Liang Hwu;Zaal K.J.M.;Plotz P.H.; Raben N.; Ralston E.; Chien Y.-H.; Baum R.; Schreiner C.; WUH-LIANG HWU; Zaal K.J.M.; Plotz P.H.
臺大學術典藏	2020-12-16T02:25:44Z	Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry	Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.

显示项目 221-245 / 458 (共19页)
<< < 4 5 6 7 8 9 10 11 12 13 > >>
每页显示[10|25|50]项目

	English \| 正體中文 \| 简体中文 \| 总笔数 :0
	造访人次 : 50695506 在线人数 : 33 教育部委托研究计画计画执行:国立台湾大学图书馆