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

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显示项目 191-240 / 770 (共16页)
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机构	日期	题名	作者
臺大學術典藏	2020-12-24T06:17:08Z	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence	Ralston E.; Swaim B.; Czapiga M.; Hwu W.-L.; YIN-HSIU CHIEN; Pittis M.G.; Bembi B.; Schwartz O.; Plotz P.; Raben N.
臺大學術典藏	2020-12-24T06:17:08Z	Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Wu S.-T.; Liou J.-J.; Chen H.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:07Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chen Y.-T.; Tsai F.-J.; Huang P.-H.; Wu M.-H.; Huang A.-C.; Chen C.-A.; Lee N.-C.; Keutzer J.; Zhang X.K.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:07Z	Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency	Chen H.-W.; Chen H.-L.; Ni Y.-H.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Huang Y.-T.; Chiu P.-C.; Chang M.-H.
臺大學術典藏	2020-12-24T06:17:06Z	Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review	Yen T.-Y.; Hwu W.-L.; YIN-HSIU CHIEN; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.
臺大學術典藏	2020-12-24T06:17:06Z	Screening for pompe disease and fabry disease	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:05Z	Web Services based newborn screening system with Support Vector Machines	YIN-HSIU CHIEN; Weng Y.-C.; Hsieh S.-L.; Hsieh S.-H.; Wang Z.; Chen P.-H.; Chang H.-Y.; Lai F.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:05Z	Myopathy in Gaucher disease	Tsai L.-K.; YIN-HSIU CHIEN; Yang C.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:04Z	Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease	Wu M.-H.; Wang J.-K.; Lin M.-T.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; Chiu S.-N.; Chen C.-A.; Chen L.-R.
臺大學術典藏	2020-12-24T06:17:04Z	Eye anomalies and neurological manifestations in patients with PAX6 mutations.	YIN-HSIU CHIEN; Huang H.P.; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C.
臺大學術典藏	2020-12-24T06:17:03Z	Caloric restriction in Alstr?m syndrome prevents hyperinsulinemia	Hwu W.-L.; Lee N.-C.; Marshall J.D.; Collin G.B.; Naggert J.K.; YIN-HSIU CHIEN; Tsai W.-Y.
臺大學術典藏	2020-12-24T06:17:03Z	Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.	YIN-HSIU CHIEN; Hwu W.L.
臺大學術典藏	2020-12-24T06:17:02Z	Schizencephaly in LEOPARD Syndrome	Peng S.-F.; Yeh S.-J.; Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.
臺大學術典藏	2020-12-24T06:17:02Z	Cystathionine γ-lyase: Clinical, metabolic, genetic, and structural studies	YIN-HSIU CHIEN; Finn C.T.; Jakobs C.; Allen R.H.; Wang J.; Stabler S.P.; Jano??kov? B.; Venezia S.; Collard R.; Ko?ich V.; Ha?ek J.; Kraus J.P.; Hwu W.-L.; Hegele R.A.; Mudd S.H.
臺大學術典藏	2020-12-24T06:17:02Z	Glycogen Storage Disease Type Ib: The First Case in Taiwan	Hsiao H.-J.; Chang H.-H.; Hwu W.-L.; Lam C.-W.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:17:01Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; YIN-HSIU CHIEN; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:00Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-24T06:17:00Z	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan	Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏	2020-12-24T06:17:00Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:59Z	Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program	Hwu W.-L.; Scholl T.; Labrousse P.; YIN-HSIU CHIEN; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.
臺大學術典藏	2020-12-24T06:16:59Z	CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency	Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:58Z	Newborn screening for neuropathic lysosomal storage disorders	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:58Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:57Z	Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry	YIN-HSIU CHIEN; De Jesus V.R.; Orsini J.J.; Keutzer J.; Dajnoki A.; Fekete G.; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.
臺大學術典藏	2020-12-24T06:16:57Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	YIN-HSIU CHIEN; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:57Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Ke Y.-Y.; Wang T.-J.; Lee D.-J.; Ma G.-C.; Lee N.-C.; Chen M.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:57Z	Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia	Schulze A.; Faghfoury H.; Korman S.H.; Hwu W.-L.; Santamar?a E.; YIN-HSIU CHIEN; Fern?ndez-Irigoyen J.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏	2020-12-24T06:16:56Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Huang H.-J.; Lee N.-C.; YIN-HSIU CHIEN; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:56Z	Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease	Chiang S.-C.; Zhang X.K.; Olivova P.; YIN-HSIU CHIEN; Lee N.-C.; Keutzer J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:56Z	Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy	Hwu W.-L.; Schreiner C.; Baum R.; YIN-HSIU CHIEN; Raben N.; Ralston E.; Zaal K.J.M.; Plotz P.H.
臺大學術典藏	2020-12-24T06:16:56Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:53Z	A reliable password-based user authentication scheme for web-based human genome database system	Hwu W.-L.; Lai F.; YIN-HSIU CHIEN; Wu Z.-Y.; Chen W.-H.
臺大學術典藏	2020-12-24T06:16:53Z	Rapid progressive course of later-onset Pompe disease in Chinese patients	Hwu W.-L.; Jong Y.-J.; Chen S.-S.; Kuo Y.-T.; Lin S.-P.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang C.-C.
臺大學術典藏	2020-12-24T06:16:52Z	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.	YIN-HSIU CHIEN; Lee N.C.; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏	2020-12-24T06:16:52Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chang M.-H.; Chen H.-L.; Chang C.-C.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-T.
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.

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