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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 701-725 of 770  (31 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2013 Diagnosing mucopolysaccharidosis IVA Wood T.C.; Harvey K.; Beck M.; Burin M.G.; YIN-HSIU CHIEN; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; Hwu W.-L.; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.
臺大學術典藏 2013 AADC deficiency. Occurring in humans, modeled in rodents. YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏 2013 Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease YIN-HSIU CHIEN; Han D.-S.; Hwu W.-L.; Thurberg B.L.; Yang W.-S.
臺大學術典藏 2013 erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5) Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; YIN-HSIU CHIEN; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏 2013 Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C YIN-HSIU CHIEN; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L.
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.

Showing items 701-725 of 770  (31 Page(s) Totally)
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