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

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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	2020-12-16T02:25:56Z	Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II	Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J.
臺大學術典藏	2020-12-16T02:25:51Z	Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004	Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏	2020-12-16T02:25:49Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:48Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:46Z	FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome	Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:45Z	Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry	Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai 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	2020-12-16T02:25:43Z	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	2020-12-16T02:25:29Z	Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)	Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:28Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU

Showing items 91-100 of 221 (23 Page(s) Totally)
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