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

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	臺大學術典藏NTU Scholars

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:20Z	Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI	Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-16T02:25:19Z	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:18Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Chiang H.-L.;Wang N.H.-H.;Song I.-W.;Chang C.-P.;Wen M.-S.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chen Y.-T.;Wu J.-Y.; Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-16T02:25:17Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-16T02:25:14Z	Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)	Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:12Z	Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period	Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:10Z	Functional independence of Taiwanese patients with mucopolysaccharidoses	Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:09Z	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.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Wang C.-H.;Lee N.-C.; 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.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:06Z	Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA	Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:02Z	Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses	Lin H.-Y.;Lee C.-L.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chang T.-M.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-16T02:24:59Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	Chien Y.-H.; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-15T07:42:11Z	Genome-wide association study identifies FCGR2A as a susceptibility locus for Kawasaki disease	Khor C.C.;Davila S.;Breunis W.B.;Lee Y.-C.;Shimizu C.;Wright V.J.;Yeung R.S.M.;Tan D.E.K.;Sim K.S.;Wang J.J.;Wong T.Y.;Pang J.;Mitchell P.;Cimaz R.;Dahdah N.;Cheung Y.-F.;Huang G.-Y.;Yang W.;Park I.-S.;Lee J.-K.;Wu J.-Y.;Levin M.;Burns J.C.;Burgner D.;Kuijpers T.W.;Hibberd M.L.;Lau Y.-L.;Zhang J.;Ma X.-J.;Liu F.;Wu L.;Yoo J.-J.;Hong S.-J.;Kim K.-J.;Kim J.-J.;Park Y.-M.;Hong Y.M.;Sohn S.;Jang G.Y.;Ha K.-S.;Nam H.-K.;Byeon J.-H.;Yun S.W.;Han M.K.;Lee K.-Y.;Hwang J.-Y.;Rhim J.-W.;Song M.S.;Lee H.-D.;Kim D.S.;Lee J.-M.;Chang J.-S.;Tsai F.-J.;Liang C.-D.;Chen M.-R.;Chi H.;Chiu N.-C.;Huang F.-Y.;Luan-Yin Chang;Huang L.-M.;Kuo H.-C.;Huang K.-P.;Lee M.-L.;Hwang B.;Huang Y.-C.;Lee P.-C.;Odam M.;Christiansen F.T.;Witt C.;Goldwater P.;Curtis N.;Palasanthiran P.;Ziegler J.;Nissen M.;Nourse C.;Kuipers I.M.;Ottenkamp J.J.;Geissler J.;Biezeveld M.;Tacke C.;Filippini L.;Brogan P.;Klein N.;Shah V.;Dillon M.;Booy R.;Shingadia D.;Bose A.;Mukasa T.;Tulloh R.;Michie C.;Newburger J.W.;Baker A.L.;Rowley A.H.;Shulman S.T.;Mason W.;Takahashi M.;Melish M.E.;Tremoulet A.H.;Viswanathan A.;Rochtchina E.;Attia J.;Scott R.;Holliday E.;Harrap S.; Khor C.C.; Davila S.; Breunis W.B.; Lee Y.-C.; Shimizu C.; Wright V.J.; Yeung R.S.M.; Tan D.E.K.; Sim K.S.; Wang J.J.; Wong T.Y.; Pang J.; Mitchell P.; Cimaz R.; Dahdah N.; Cheung Y.-F.; Huang G.-Y.; Yang W.; Park I.-S.; Lee J.-K.; Wu J.-Y.; Levin M.; Burns J.C.; Burgner D.; Kuijpers T.W.; Hibberd M.L.; Lau Y.-L.; Zhang J.; Ma X.-J.; Liu F.; Wu L.; Yoo J.-J.; Hong S.-J.; Kim K.-J.; Kim J.-J.; Park Y.-M.; Hong Y.M.; Sohn S.; Jang G.Y.; Ha K.-S.; Nam H.-K.; Byeon J.-H.; Yun S.W.; Han M.K.; Lee K.-Y.; Hwang J.-Y.; Rhim J.-W.; Song M.S.; Lee H.-D.; Kim D.S.; Lee J.-M.; Chang J.-S.; Tsai F.-J.; Liang C.-D.; Chen M.-R.; Chi H.; Chiu N.-C.; Huang F.-Y.; LUAN-YIN CHANG; Huang L.-M.; Kuo H.-C.; Huang K.-P.; Lee M.-L.; Hwang B.; Huang Y.-C.; Lee P.-C.; Odam M.; Christiansen F.T.; Witt C.; Goldwater P.; Curtis N.; Palasanthiran P.; Ziegler J.; Nissen M.; Nourse C.; Kuipers I.M.; Ottenkamp J.J.; Geissler J.; Biezeveld M.; Tacke C.; Filippini L.; Brogan P.; Klein N.; Shah V.; Dillon M.; Booy R.; Shingadia D.; Bose A.; Mukasa T.; Tulloh R.; Michie C.; Newburger J.W.; Baker A.L.; Rowley A.H.; Shulman S.T.; Mason W.; Takahashi M.; Melish M.E.; Tremoulet A.H.; Viswanathan A.; Rochtchina E.; Attia J.; Scott R.; Holliday E.; Harrap S.
臺大學術典藏	2020-12-15T07:42:09Z	Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis	Liang C.-D.; Chi H.; Huang F.-Y.; Lee M.-L.; Huang Y.-C.; Hwang B.; Chiu N.-C.; Hwang K.-P.; Lee P.-C.; Chang L.-C.; Liu Y.-M.; Chen Y.-J.; Chen C.-H.; Chen Y.-T.; Tsai F.-J.; Wu J.-Y.; Chen M.-R.; LUAN-YIN CHANG; Huang L.-M.; Chang J.-S.; Kuo H.-C.; Lee Y.-C.
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	2020-12-09T01:38:36Z	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	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	2020-12-09T01:38:34Z	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	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	2020-12-09T01:38:26Z	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.
臺大學術典藏	2020-12-09T01:38:25Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Chien Y.-H.;Ni-Chung Lee;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Hwu W.-L.; Chien Y.-H.; NI-CHUNG LEE; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:24Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Chien Y.-H.; NI-CHUNG LEE; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L.
臺大學術典藏	2020-12-09T01:38:22Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	Peng S.S.-F.; Hwu W.-L.; NI-CHUNG LEE; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-09T01:38:21Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; NI-CHUNG LEE; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.

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