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機構	日期	題名	作者
臺大學術典藏	2012	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Chien Y.-H.; Lee N.-C.; PEI-HSIN HUANG; Lee W.-T.; Thurberg B.L.; Hwu W.-L.
臺大學術典藏	2012	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Lee N.-C.; Hwu W.-L.; Tsai I.-J.; Lee W.-T.; Huang P.-H.; Wu E.-T.; Weng W.-C.; Peng S.-F.; Chien Y.-H.; Wu J.-F.; Tsai L.-P.; Liu H.-M.
臺大學術典藏	2012	Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax	Yeang C.-H.; Ma G.-C.; Shih J.-C.; Yang Y.-S.; Chen C.-P.; Chang S.-P.; Wu S.-H.; Liu C.-S.; Kuo S.-J.; HUNG-CHIEH CHOU; Hwu W.-L.; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M.
臺大學術典藏	2012	Newborn screening for phenylketonuria: Machine learning vs clinicians	Hsu K.-P.; Tseng Y.-J.; Chen H.-P.; Chen W.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.
臺大學術典藏	2012	Integrating human genome database into electronic health record with sequence alignment and compression mechanism	Chen W.-H.; Lu Y.-W.; Lai F.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2012	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; YIN-HSIU CHIEN; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2012	Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2012	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Hwu W.-L.; YEN-HSUAN NI; Su Y.-N.; Chen S.-T.; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H.
臺大學術典藏	2012	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Huang P.-H.; Wu E.-T.; Peng S.-F.; WEN-CHIN WENG; Wu J.-F.; Chien Y.-H.; Tsai L.-P.; Liu H.-M.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2011	Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P; Chen P.-H; Hwu W.-L; Chuang C.-Y; Chien Y.-H; Stone L; Chien C.-L; Li L.-T; Chiang S.-C; Chen H.-F; HONG-NERNG HO; Chen C.-H; Kuo H.-C.
臺大學術典藏	2011	Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease	Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y.
臺大學術典藏	2011	Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease	STEVEN SHINN-FORNG PENG; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y.
臺大學術典藏	2011	Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease	Tseng I.W.-Y.; Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; HON-MAN LIU
臺大學術典藏	2011	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. ;Lee N.-C. ;Wang J.-K. ;Chen L.-R. ;Lu C.-W. ;Lin M.-T. ;Shuenn-Nan Chiu ;Chiu H.-H. ;Wu M.-H.; Chen C.-A.; Chien Y.-H.; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; SHUENN-NAN CHIU; Chiu H.-H.; Wu M.-H.
臺大學術典藏	2011	Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy	Wu M.-H.; Chen C.-A.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.
臺大學術典藏	2011	Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project	Abdenur J.E.; Cameron C.A.; McHugh D.M.S.; Ramos D.E.C.; Castilla A.M.; Cassanello M.; Carlisle C.; Caruso U.; Cariappa R.; Carducci C.; Campbell C.; Camilot M.; Caldwell S.G.; Caggana M.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Fijolek K.F.; Evans C.; Fawbush S.; Eroh S.; Espada M.; El Mougy F.; Eckerd B.M.; Eaton R.; Elvers B.; Rueda I.; Dymerski M.; Dy B.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; YIN-HSIU CHIEN; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Ibarra-Gonz?lez I.; Hynes J.; Hwu W.-L.; Hunt P.R.; Hougaard D.M.; Hughes K.; Hopkins P.V.; Hoggatt P.; Hoffman W.; Hoffman G.L.; Himstedt L.; Hietala A.; He M.; Hassan F.A.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Hannon W.H.; Haslip C.; Lloyd-Puryear M.A.; Lindner M.; Linard S.; Lim C.; Lesko B.; Lewis B.; Lepage J.; Lemes A.; Lehotay D.C.; Lee S.-Y.; Lavochkin M.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Peterson C.; Pass K.A.; Patel P.; Pasquini E.; Park H.-D.; Pasquali M.; Reoyo S.P.; Papakonstantinou V.; Ojodu J.; Ombrone D.; Oltarzewski M.; Oglesbee D.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Nikoloudis D.; Norgaard-Pedersen B.; Sinclair G.; Shone S.M.; Sevier D.W.; Sesser D.E.; Seashore M.R.; Seeterlin M.A.; Scott P.; Schweitzer B.; Schoos R.; Schenone A.; Santiago-Borrero P.; Garc?a-Blanco M.I.S.; Sahai I.; Saban C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Watson M.S.; Vorster B.C.; Vincent M.-F.; Von D?beln U.; Vela-Amieva M.; Vilarinho L.; Vallance H.; Valiente A.G.; Tzanakos N.; Turner K.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M.
臺大學術典藏	2011	Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia	Wei S.-H. ;Wen-Chin Weng ;Lee N.-C. ;Hwu W.-L. ;Lee W.-T.; Wei S.-H.; WEN-CHIN WENG; Lee N.-C.; Hwu W.-L.; Lee W.-T.
臺大學術典藏	2011	Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease	Peng S.S.-F.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M.; Tseng I.W.-Y.
臺大學術典藏	2011	Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010	Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; YIN-HSIU CHIEN; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.
臺大學術典藏	2010	Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation	Chen P.W.; Hwu W.L.; Ho M.C.; Lee N.C.; YIN-HSIU CHIEN; Ni Y.H.; Lee P.H.
臺大學術典藏	2009	Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti	Lee N.C.; Huang C.H.; Hwu W.L.; YIN-HSIU CHIEN; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏	2009	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.; YIN-HSIU CHIEN; 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	2009	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.;Chen H.-L.;Yen-Hsuan Ni;Chien Y.-H.;Jeng Y.-M.;Chang M.-H.;Hwu W.-L.; Chen S.-T.; Chen H.-L.; YEN-HSUAN NI; Chien Y.-H.; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2008	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.;Hwu W.-L.;Wu M.-H.;Shoei-Shen Wang; Huang S.-C.; Wu E.-T.; Chiu S.; Hwu W.-L.; Wu M.-H.; SHOEI-SHEN WANG
臺大學術典藏	2008	Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease	Wang R.; Chen H.-L.; Hwu W.-L.; YUNG-MING JENG; Chang M.-H.; Ling V.; Chen H.-L.
臺大學術典藏	2008	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.; Hwu W.-L.
臺大學術典藏	2008	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Ni-Chung Lee;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.;Hwu W.-L.; NI-CHUNG LEE; 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.; Hwu W.-L.
臺大學術典藏	2008	Mutation of Mitochondrial DNA G13513A Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy	Wang S.-B.; Weng W.-C.; Lee N.-C.; Hwu W.-L.; PI-CHUAN FAN; Lee W.-T.
臺大學術典藏	2008	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Huang P.-K.; Wang C.-C.; Chiu S.-N.; EN-TING WU; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2008	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease	Wu E.-T.; Chiu S.-N.; Wang C.-C.; Huang P.-K.; YIN-HSIU CHIEN; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏	2008	Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter	Wang S.-S.; MEI-HWAN WU; Hwu W.-L.; Chiu S.; Wu E.-T.; Huang S.-C.; Huang S.-C.;Wu E.-T.;Chiu S.;Hwu W.-L.;Mei-Hwan Wu;Wang S.-S.
臺大學術典藏	2008	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Zhang X.K.; Chiang S.-C.; Chien Y.-H.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2008	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.; Hwu W.-L.; Wang J.-K.; MEI-HWAN WU
臺大學術典藏	2008	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.;Chun-An Chen;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.; Lee N.-C.; Huang A.-C.; CHUN-AN CHEN; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2008	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia	Lee N.-C.; YIN-HSIU CHIEN; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L.
臺大學術典藏	2008	Early detection of glutaric aciduria type I by newborn screening in Taiwan	Hsieh C.-T.; Hwu W.-L.; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN
臺大學術典藏	2007	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	WEN-YU TSAI; Wang, S.Y.;Tung, Y.C.;Tsai, W.Y.;Chien, Y.H.;Lee, J.S.;Hwu, W.L.
臺大學術典藏	2007	Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism	Wu R.-M.; CHUN-HWEI TAI; Lin C.-H.; Hwu W.-L.; Chiang S.-C.
臺大學術典藏	2007	Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.	YIN-HSIU CHIEN; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏	2007	Slipped capital femoral epiphysis as a complication of growth hormone therapy.	Wang S.Y.; Tung Y.C.; Tsai W.Y.; YIN-HSIU CHIEN; Lee J.S.; Hwu W.L.
國立臺灣大學	2006-06	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Yeh, J. N.; Jeng, Y. M.; Chen, H. L.; Ni, Y. H.; Hwu, W. L.; Chang, M. H.
臺大學術典藏	2006	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants	Chang M.-H.; Ni Y.-H.; Hwu W.-L.; Jeng Y.-M.; HUEY-LING CHEN; Yeh J.-N.; Yeh J.-N.;Jeng Y.-M.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.
臺大學術典藏	2006	Brain development in infantile-onset pompe disease treated by enzyme replacement therapy	Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Peng S.-F.
臺大學術典藏	2006	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency	Hwu W.-L.; Chang M.-H.; YEN-HSUAN NI; Chiu P.-C.; Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Yen-Hsuan Ni;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.
臺大學術典藏	2005	Mapping of psoriasis to 17q terminus	Chen Y.-T.; Wu J.-Y.; Hung S.-I.; Chen C.-H.; Chiang S.-C.; Chein Y.-H.; TSEN-FANG TSAI; Chen C.-L.; Yang C.-F.; Fann C.S.J.; Hwu W.-L.; Hwu W.-L.;Yang C.-F.;Fann C.S.J.;Chen C.-L.;Tsen-Fang Tsai;Chein Y.-H.;Chiang S.-C.;Chen C.-H.;Hung S.-I.;Wu J.-Y.;Chen Y.-T.
臺大學術典藏	2005	Parkin mutations and early-onset parkinsonism in a Taiwanese cohort	Hwu W.-L.; Chen J.; CHIN-HSIEN LIN; Hulihan M.; Lincoln S.; Bounds R.; Wu R.-M.; Wu R.-M.;Bounds R.;Lincoln S.;Hulihan M.;Chin-Hsien Lin;Hwu W.-L.;Chen J.;Gwinn-Hardy K.;Farrer M.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏	2005	Spectrum of hypermethioninemia in neonatal screening	Hwu W.-L.; Chiang S.-C.; Huang A.; YIN-HSIU CHIEN
臺大學術典藏	2005	Reye's syndrome developing in an infant on treatment of Kawasaki syndrome	Hwu W.-L.; Ma C.-Y.; Chen C.-M.; PING-ING LEE; Chen H.-L.; Wei C.-M.; Wei C.-M.;Chen H.-L.;Ping-Ing Lee;Chen C.-M.;Ma C.-Y.;Hwu W.-L.
臺大學術典藏	2004	Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment	Liu H.-M.; Hwu W.-L.; Chien Y.-H.; Peng S.S.-F.; Tseng W.-Y.I.
臺大學術典藏	2004	DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients	Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; TA-FU CHEN; Wang H.C.; Chao M.C.; Hwu W.L.; Wu Y.R.; Wang C.K.; Wang C.K.;Wu Y.R.;Hwu W.L.;Chen C.M.;Ro L.S.;Chen S.T.;Gwinn-Hardy K.;Yang C.C.;Wu R.M.;Ta-Fu Chen;Wang H.C.;Chao M.C.;Chiu M.J.;Lu C.J.;Lee-Chen G.J.; Lee-Chen G.J.; Lu C.J.; Chiu M.J.

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