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机构 日期 题名 作者
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 2009 Pseudogene-derived IKBKG gene mutations in incontinentia pigmenti Lee N.C.; Huang C.H.; Hwu W.L.; YIN-HSIU CHIEN; Chang Y.Y.; Chen C.H.; Ko T.M.
臺大學術典藏 2009 Newborn screening for fabry disease in taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chiang S.-C.; Dobrovolny R.; Huang A.-C.; Yeh H.-Y.; Chao M.-C.; Lin S.-J.; Kitagawa T.; Desnick R.J.; Hsu L.-W.
臺大學術典藏 2009 Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study Palmieri F.; Santorelli F.M.; Pierri C.L.; Hernandez J.M.; Martinez-Hernandez E.; Walter J.; Besley G.; Aldamiz-Echevarria L.; Scarano G.; Melone M.A.B.; Tessa A.; Fiermonte G.; Dionisi-Vici C.; Paradies E.; Baumgartner M.R.; YIN-HSIU CHIEN; Loguercio C.; De Baulny H.O.; Nassogne M.-C.; Schiff M.; Deodato F.; Parenti G.; Rutledge S.L.; Antonia Vilaseca M.
臺大學術典藏 2008 A newborn screening system based on Service-Oriented Architecture embedded Support Vector Machine Hsieh S.-H.; Hsieh S.-L.; YIN-HSIU CHIEN; Wang Z.; Weng Y.-C.; Lai F.
臺大學術典藏 2008 Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease Wu E.-T.; Chiu S.-N.; Wang C.-C.; Huang P.-K.; YIN-HSIU CHIEN; Hwu W.-L.; Wang J.-K.; Wu M.-H.
臺大學術典藏 2008 Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia Lee N.-C.; YIN-HSIU CHIEN; Peng S.-F.; Huang A.-C.; Liu T.-T.; Wu A.S.-H.; Chen L.-C.; Hsu L.-W.; Tseng S.-C.; Hwu W.-L.
臺大學術典藏 2008 Early detection of glutaric aciduria type I by newborn screening in Taiwan Hsieh C.-T.; Hwu W.-L.; Huang Y.-T.; Huang A.-C.; Wang S.-F.; Hu M.-H.; YIN-HSIU CHIEN
臺大學術典藏 2007 Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year. YIN-HSIU CHIEN; Lee N.C.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L.
臺大學術典藏 2007 Slipped capital femoral epiphysis as a complication of growth hormone therapy. Wang S.Y.; Tung Y.C.; Tsai W.Y.; YIN-HSIU CHIEN; Lee J.S.; Hwu W.L.

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