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

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	Repositories
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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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	機構典藏計畫網站
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	臺大學術典藏NTU Scholars

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Showing items 196-220 of 770 (31 Page(s) Totally)
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Institution	Date	Title	Author
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.

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