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

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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:44Z	Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia	Fern?Ndez-Irigoyen J.;Santamar?A E.;Chien Y.-H.;Wuh-Liang Hwu;Korman S.H.;Faghfoury H.;Schulze A.;Hoganson G.E.;Stabler S.P.;Allen R.H.;Wagner C.;Mudd S.H.;Corrales F.J.; Fern?ndez-Irigoyen J.; Santamar?a E.; Chien Y.-H.; WUH-LIANG HWU; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏	2020-12-16T02:25:44Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:44Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Lee N.-C.;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:44Z	Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy	Raben N.;Ralston E.;Chien Y.-H.;Baum R.;Schreiner C.;Wuh-Liang Hwu;Zaal K.J.M.;Plotz P.H.; Raben N.; Ralston E.; Chien Y.-H.; Baum R.; Schreiner C.; WUH-LIANG HWU; Zaal K.J.M.; Plotz P.H.
臺大學術典藏	2020-12-16T02:25:44Z	Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry	Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.
臺大學術典藏	2020-12-16T02:25:43Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:43Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:43Z	Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease	Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Lee N.-C.;Keutzer J.;Wuh-Liang Hwu; Chien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:43Z	How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?	Auray-Blais C.;Ntwari A.;Clarke J.T.R.;Warnock D.G.;Oliveira J.P.;Young S.P.;Millington D.S.;Bichet D.G.;Sirrs S.;West M.L.;Casey R.;Wuh-Liang Hwu;Keutzer J.M.;Zhang X.K.;Gagnon R.; Auray-Blais C.; Ntwari A.; Clarke J.T.R.; Warnock D.G.; Oliveira J.P.; Young S.P.; Millington D.S.; Bichet D.G.; Sirrs S.; West M.L.; Casey R.; WUH-LIANG HWU; Keutzer J.M.; Zhang X.K.; Gagnon R.
臺大學術典藏	2020-12-16T02:25:42Z	Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease	Peng S.S.-F.;Chien Y.-H.;Wuh-Liang Hwu;Liu H.-M.;Tseng I.W.-Y.; Peng S.S.-F.; Chien Y.-H.; WUH-LIANG HWU; Liu H.-M.; Tseng I.W.-Y.

Showing items 241-250 of 458 (46 Page(s) Totally)
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