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Showing items 451-458 of 458  (46 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2014 Mutant EXT1 in Taiwanese patients with multiple hereditary exostoses Lin W.-D.; WUH-LIANG HWU; Wang C.-H.; Tsai F.-J.
臺大學術典藏 2013 Promising outcomes in glutaric aciduria type i patients detected by newborn screening Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C.; WUH-LIANG HWU; Lee N.-C.
高雄醫學大學 2009 高胰島素合併高血氨症候群以高血氨及allopurinol test異常表現的台灣個案報告  林龍昌;胡務亮;楊瑞成 ; Lung-Chang Lin;Wuh-Liang Hwu;Rei-Cheng Yang 
臺大學術典藏 2009 Pompe disease in infants: Improving the prognosis by newborn screening and early treatment Chien, Y.-H. and Lee, N.-C. and Thurberg, B.L. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Huang, A.-C. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; NI-CHUNG LEE; MEI-HWAN WU; YIN-HSIU CHIEN; WUH-LIANG HWU; PEI-HSIN HUANG
臺大學術典藏 2005 Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C Yang, C.-C. and Su, Y.-N. and Chiou, P.-C. and Fietz, M.J. and Yu, C.-L. and Hwu, W.-L. and Lee, M.-J.; MING-JEN LEE; WUH-LIANG HWU; Chih-Chao Yang
臺大學術典藏 2004 Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. Chen C.P.;Lin S.P.;Tzen C.Y.;Tsai F.J.;Wuh-Liang Hwu;Wang W.; Chen C.P.; Lin S.P.; Tzen C.Y.; Tsai F.J.; WUH-LIANG HWU; Wang W.
臺大學術典藏 1999 Molecular genetic study of Pompe disease in Chinese patients in Taiwan Ko T.-M.;Wuh-Liang Hwu;Lin Y.-W.;Tseng L.-H.;Hwa H.-L.;Wang T.-R.;Chuang S.-M.; Ko T.-M.; WUH-LIANG HWU; Lin Y.-W.; Tseng L.-H.; Hwa H.-L.; Wang T.-R.; Chuang S.-M.
臺大學術典藏 1996 Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation. Tsai L.P.;Sue W.C.;Wuh-Liang Hwu;Lin K.H.;Wang T.R.; Tsai L.P.; Sue W.C.; WUH-LIANG HWU; Lin K.H.; Wang T.R.

Showing items 451-458 of 458  (46 Page(s) Totally)
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