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

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機構	日期	題名	作者
臺大學術典藏	2020-12-16T02:25:39Z	Preimplantation and prenatal genetic diagnosis of aromatic L-amino aciddecarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction	Kuo S.-J.;Ma G.-C.;Chang S.-P.;Wu H.-H.;Chen C.-P.;Chang T.-M.;Lin W.-H.;Wu S.-H.;Lee M.-H.;Wuh-Liang Hwu;Chen M.; Kuo S.-J.; Ma G.-C.; Chang S.-P.; Wu H.-H.; Chen C.-P.; Chang T.-M.; Lin W.-H.; Wu S.-H.; Lee M.-H.; WUH-LIANG HWU; Chen M.
臺大學術典藏	2020-12-16T02:25:38Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; WUH-LIANG HWU; Chang K.-J.
臺大學術典藏	2020-12-16T02:25:38Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Li S.-C.; WUH-LIANG HWU; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:38Z	IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice	Tsai L.-K.; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; WUH-LIANG HWU; Cheng S.H.; Passini M.A.
臺大學術典藏	2020-12-16T02:25:38Z	Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.	Chien Y.H.; Lee N.C.; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:37Z	Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome	Wang S.-H.; Wu C.-C.; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU; Yu I.-S.; Hsu C.-J.
臺大學術典藏	2020-12-16T02:25:37Z	Expert recommendations for the laboratory diagnosis of MPS VI	Wood T.; Bodamer O.A.; Burin M.G.; D'Almeida V.; Fietz M.; Giugliani R.; Hawley S.M.; Hendriksz C.J.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Mendelsohn N.J.; Miller N.; Pasquali M.; Schenone A.; Schoonderwoerd K.; Winchester B.; Harmatz P.
臺大學術典藏	2020-12-16T02:25:37Z	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.; Chou H.-C.; WUH-LIANG HWU; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M.
臺大學術典藏	2020-12-16T02:25:37Z	PSORS2 is due to mutations in CARD14	Jordan C.T.; Cao L.; Roberson E.D.O.; Pierson K.C.; Yang C.-F.; Joyce C.E.; Ryan C.; Duan S.; Helms C.A.; Liu Y.; Chen Y.; McBride A.A.; WUH-LIANG HWU; Wu J.-Y.; Chen Y.-T.; Menter A.; Goldbach-Mansky R.; Lowes M.A.; Bowcock A.M.
臺大學術典藏	2020-12-16T02:25:37Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Chien Y.-H.; Lee N.-C.; Huang P.-H.; Lee W.-T.; Thurberg B.L.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:36Z	Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.; Chen P.-H.; WUH-LIANG HWU; Chuang C.-Y.; Chien Y.-H.; 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	2020-12-16T02:25:36Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	WUH-LIANG HWU; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M.
臺大學術典藏	2020-12-16T02:25:35Z	An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery	Lee N.-C.; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:34Z	A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child	Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:34Z	Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program	Chiang S.-C.; WUH-LIANG HWU; Lee N.-C.; Hsu L.-W.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:34Z	Enhanced interpretation of newborn screening results without analyte cutoff values	Dotsikas Y.; Downing M.; Bonham J.; Stembridge A.; Ludvigson D.; Vianey-Saban C.; Cheillan D.; Zori R.; Torres J.; Dy B.; Bodamer O.; Marquardt G.; Currier R.; McHugh D.M.S.; Gavrilov D.; Magera M.J.; Matern D.; Oglesbee D.; Raymond K.; Rinaldo P.; Smith E.H.; Tortorelli S.; Turgeon C.T.; Lorey F.; Wilcken B.; Wiley V.; Greed L.C.; Lewis B.; Boemer F.; Schoos R.; Marie S.; Vincent M.-F.; Sica Y.C.; Domingos M.T.; Al-Thihli K.; Sinclair G.; Al-Dirbashi O.Y.; Chakraborty P.; Dymerski M.; Porter C.; Manning A.; Seashore M.R.; Quesada J.; Reuben A.; Chrastina P.; Hornik P.; Atef Mandour I.; Atty Sharaf S.A.; Mei B.; Hoffman G.L.; 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.; Chien Y.-H.; WUH-LIANG HWU; Childs T.; McKeever C.D.; Tanyalcin T.; Abdulrahman M.; Queijo C.; Lemes A.; Davis T.; Hoffman W.; Loukas Y.L.; Papakonstantinou V.; Zacharioudakis G.S.A.; Bar?th K.; Karg E.; Franzson L.; Jonsson J.J.; Breen N.N.; Lesko B.G.; Berberich S.L.; Turner K.; Ruoppolo M.; Scolamiero E.; Antonozzi I.; Carducci C.; 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.; McCann M.; Campbell C.; Hopkins P.V.; De Sain-Van Der Velden M.G.; Elvers B.; Morrissey M.A.; Sunny S.; Knoll D.; Webster D.; Frazier D.M.; McClure J.D.
臺大學術典藏	2020-12-16T02:25:33Z	Newborn screening for phenylketonuria: Machine learning vs clinicians	Chen W.-H.;Chen H.-P.;Tseng Y.-J.;Hsu K.-P.;Hsieh S.-L.;Chien Y.-H.;Wuh-Liang Hwu;Lai F.; Chen W.-H.; Chen H.-P.; Tseng Y.-J.; Hsu K.-P.; Hsieh S.-L.; Chien Y.-H.; WUH-LIANG HWU; Lai F.
臺大學術典藏	2020-12-16T02:25:33Z	Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing	Kim J.C.; Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.
臺大學術典藏	2020-12-16T02:25:33Z	Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region	WUH-LIANG HWU; Okuyama T.; But W.M.; Estrada S.; Gu X.; Hui J.; Kosuga M.; Lin S.-P.; Ngu L.-H.; Shi H.; Tanaka A.; Thong M.-K.; Wattanasirichaigoon D.; Wasant P.; McGill J.
臺大學術典藏	2020-12-16T02:25:33Z	Integrating human genome database into electronic health record with sequence alignment and compression mechanism	Chen W.-H.; Lu Y.-W.; Lai F.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Fatty acid oxidation disorders in a chinese population in Taiwan	Chien Y.-H.; Lee N.-C.; Chao M.-C.; Chen L.-C.; Chen L.-H.; Chien C.-C.; Ho H.-C.; Suen J.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C	Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:32Z	Can a girl with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency live a normal life?	Tsai T.-Y.;Weng C.-Y.;Lin H.-M.;Lai P.-C.;Chou S.-P.;Wuh-Liang Hwu;Chu S.-Y.; Tsai T.-Y.; Weng C.-Y.; Lin H.-M.; Lai P.-C.; Chou S.-P.; WUH-LIANG HWU; Chu S.-Y.
臺大學術典藏	2020-12-16T02:25:32Z	AADC deficiency. Occurring in humans, modeled in rodents.	WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.
臺大學術典藏	2020-12-16T02:25:31Z	Diagnosing mucopolysaccharidosis IVA	Wood T.C.; Harvey K.; Beck M.; Burin M.G.; Chien Y.-H.; Church H.J.; D'Almeida V.; Van Diggelen O.P.; Fietz M.; Giugliani R.; Harmatz P.; Hawley S.M.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Miller N.; Pasquali M.; Schenone A.; Thompson J.N.; Tylee K.; Yu C.; Hendriksz C.J.

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