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

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机构	日期	题名	作者
臺大學術典藏	2020-12-24T06:16:52Z	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	2020-12-24T06:16:51Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Wu R.-M.; Tai C.-H.; Byrne B.J.; YIN-HSIU CHIEN; Snyder R.O.; Lee N.-C.; Tzen K.-Y.; Tseng S.-H.; Muramatsu S.-I.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:51Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Hsieh W.-S.; Chen C.-Y.; Chou H.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:51Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Hwu W.-L.; Thurberg B.L.; Huang P.-H.; Lee W.-T.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:51Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Chang K.-J.; Hwu W.-L.; Hsieh F.-J.; Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Bai L.-Y.; Lu Y.-S.; Liu T.-P.; YIN-HSIU CHIEN; Kuo W.-H.; Lin P.-H.; Huang A.-C.
臺大學術典藏	2020-12-24T06:16:50Z	An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery	Ghivizzani S.C.; Watson R.; Erger K.E.; Jorgensen M.L.; Potter M.; Clement N.; Porvasnik S.; Conlon T.J.; Lee N.-C.; Falk D.J.; Byrne B.J.; Chiu H.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:49Z	Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program	Chiang S.-C.; Hwu W.-L.; Lee N.-C.; Hsu L.-W.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:49Z	Enhanced interpretation of newborn screening results without analyte cutoff values	Porter C.; Dymerski M.; Chakraborty P.; Al-Dirbashi O.Y.; Al-Thihli K.; Sinclair G.; Domingos M.T.; Sica Y.C.; Vincent M.-F.; Marie S.; Schoos R.; Boemer F.; Lewis B.; Greed L.C.; Wiley V.; Wilcken B.; Lorey F.; Turgeon C.T.; Tortorelli S.; Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Carducci C.; Antonozzi I.; Scolamiero E.; Turner K.; Ruoppolo M.; Berberich S.L.; Lesko B.G.; Breen N.N.; Jonsson J.J.; Franzson L.; Karg E.; Bar?th K.; Zacharioudakis G.S.A.; Papakonstantinou V.; Loukas Y.L.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Bodamer O.; Dy B.; Torres J.; Zori R.; Cheillan D.; Vianey-Saban C.; Ludvigson D.; Stembridge A.; Bonham J.; Downing M.; Dotsikas Y.; Webster D.; Knoll D.; Sunny S.; Elvers B.; Morrissey M.A.; De Sain-Van Der Velden M.G.; Hopkins P.V.; Campbell C.; McCann M.; Caruso U.; Cassanello M.; La Marca G.; Pasquini E.; Di Gangi I.M.; Giordano G.; Camilot M.; Teofoli F.; Manos S.M.; Peterson C.K.; Mayfield Gibson S.K.; Sevier D.W.; Lee S.-Y.; Park H.-D.; Khneisser I.; Browning P.; Gulamali-Majid F.; Watson M.S.; Eaton R.B.; Sahai I.; Ruiz C.; Torres R.; Seeterlin M.A.; Stanley E.L.; Hietala A.; Hoffman G.L.; Mei B.; Hoffman W.; Davis T.; Lemes A.; Queijo C.; Abdulrahman M.; Tanyalcin T.; McKeever C.D.; Childs T.; Hwu W.-L.; Frazier D.M.; McClure J.D.; Sesser D.E.; Willis S.A.; Rocha H.; Vilarinho L.; John C.; Lim J.; Caldwell S.G.; Tomashitis K.; Cast?eiras Ramos D.E.; Cocho De Juan J.A.; Rueda Fern?ndez I.; Yahyaoui Mac?as R.; Egea-Mellado J.M.; Gonz?lez-Gallego I.; Delgado Pecellin C.; Garc?a-Valdecasas Bermejo M.S.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:47Z	Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians	Chen H.-P.; Hsu K.-P.; Hsieh S.-L.; Chen W.-H.; Su X.-Y.; Tseng Y.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.
臺大學術典藏	2020-12-24T06:16:46Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Ho H.-C.; Chien C.-C.; Chen L.-H.; Chao M.-C.; Chen L.-C.; Lee N.-C.; YIN-HSIU CHIEN; Suen J.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:45Z	Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests	Wang L.-Y.; Chen N.-I.; Chen P.-W.; Chiang S.-C.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:45Z	Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin	Wang J.; Cui H.; Lee N.-C.; Hwu W.-L.; YIN-HSIU CHIEN; Craigen W.J.; Wong L.-J.; Zhang V.W.
臺大學術典藏	2020-12-24T06:16:43Z	Lung toxicity of hydroxypropyl-β-cyclodextrin infusion	Lee N.-C.; Hwu W.-L.; Yang C.-Y.; Shieh Y.-D.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:43Z	Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation	Chen Y.-C.; YIN-HSIU CHIEN; Chen P.-W.; Leung-Sang Tang N.; Chiu P.-C.; Hwu W.-L.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:42Z	Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation	YIN-HSIU CHIEN; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:42Z	Pompe disease: Early diagnosis and early treatment make a difference	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:41Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.; Hwu W.-L.; Huang S.-C.; Lee N.-C.; Wu E.-T.; YIN-HSIU CHIEN; Tsau Y.-K.
臺大學術典藏	2020-12-24T06:16:41Z	Outcome of early-treated type III Gaucher disease patients	Hwu W.-L.; Shun C.-T.; Chao M.-C.; Leung J.H.; Lee N.-C.; YIN-HSIU CHIEN; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.
臺大學術典藏	2020-12-24T06:16:41Z	AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients	Hwu W.-L.; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:40Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	Hsu L.-W.; Wang S.-F.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:40Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Hwu W.-L.; Tsai F.-J.; Thurberg B.L.; Tsai Y.-J.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:39Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	Lee N.-C.; YIN-HSIU CHIEN; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:39Z	Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype	Lee D.-H.; Qiu W.-J.; Lee J.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:38Z	Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening	Young S.P.; Kishnani P.S.; Millington D.S.; Vaisnins A.E.; Zhang H.; YIN-HSIU CHIEN; Goldstein J.L.; Hwu W.-L.; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A.
臺大學術典藏	2020-12-24T06:16:38Z	Parental discussion of G6PD deficiency and child health: Implications for clinical practice	Erby L.A.H.; Huang A.; Roter D.L.; Guan Y.; YIN-HSIU CHIEN; Hwu W.-L.

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