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臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)
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Showing items 736-760 of 770  (31 Page(s) Totally)
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Institution Date Title Author
臺大學術典藏 2008 Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter Wang S.-S.; MEI-HWAN WU; Hwu W.-L.; Chiu S.; Wu E.-T.; Huang S.-C.; Huang S.-C.;Wu E.-T.;Chiu S.;Hwu W.-L.;Mei-Hwan Wu;Wang S.-S.
臺大學術典藏 2008 Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program Zhang X.K.; Chiang S.-C.; Chien Y.-H.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏 2008 Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease Huang P.-K.; Wang C.-C.; Chiu S.-N.; Wu E.-T.; Chien Y.-H.; Hwu W.-L.; Wang J.-K.; MEI-HWAN WU
臺大學術典藏 2008 Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chun-An Chen;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Hwu W.-L.; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; CHUN-AN CHEN; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
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 Slipped capital femoral epiphysis as a complication of growth hormone therapy. WEN-YU TSAI; Wang, S.Y.;Tung, Y.C.;Tsai, W.Y.;Chien, Y.H.;Lee, J.S.;Hwu, W.L.
臺大學術典藏 2007 Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism Wu R.-M.; CHUN-HWEI TAI; Lin C.-H.; Hwu W.-L.; Chiang S.-C.
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.
國立臺灣大學 2006-06 Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants Yeh, J. N.; Jeng, Y. M.; Chen, H. L.; Ni, Y. H.; Hwu, W. L.; Chang, M. H.
臺大學術典藏 2006 Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants Chang M.-H.; Ni Y.-H.; Hwu W.-L.; Jeng Y.-M.; HUEY-LING CHEN; Yeh J.-N.; Yeh J.-N.;Jeng Y.-M.;Huey-Ling Chen;Ni Y.-H.;Hwu W.-L.;Chang M.-H.
臺大學術典藏 2006 Brain development in infantile-onset pompe disease treated by enzyme replacement therapy Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Peng S.-F.
臺大學術典藏 2006 Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency Hwu W.-L.; Chang M.-H.; YEN-HSUAN NI; Chiu P.-C.; Lee N.-C.;Chien Y.-H.;Kobayashi K.;Saheki T.;Chen H.-L.;Chiu P.-C.;Yen-Hsuan Ni;Chang M.-H.;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Kobayashi K.; Saheki T.; Chen H.-L.
臺大學術典藏 2005 Mapping of psoriasis to 17q terminus Chen Y.-T.; Wu J.-Y.; Hung S.-I.; Chen C.-H.; Chiang S.-C.; Chein Y.-H.; TSEN-FANG TSAI; Chen C.-L.; Yang C.-F.; Fann C.S.J.; Hwu W.-L.; Hwu W.-L.;Yang C.-F.;Fann C.S.J.;Chen C.-L.;Tsen-Fang Tsai;Chein Y.-H.;Chiang S.-C.;Chen C.-H.;Hung S.-I.;Wu J.-Y.;Chen Y.-T.
臺大學術典藏 2005 Parkin mutations and early-onset parkinsonism in a Taiwanese cohort Hwu W.-L.; Chen J.; CHIN-HSIEN LIN; Hulihan M.; Lincoln S.; Bounds R.; Wu R.-M.; Wu R.-M.;Bounds R.;Lincoln S.;Hulihan M.;Chin-Hsien Lin;Hwu W.-L.;Chen J.;Gwinn-Hardy K.;Farrer M.; Gwinn-Hardy K.; Farrer M.
臺大學術典藏 2005 Spectrum of hypermethioninemia in neonatal screening Hwu W.-L.; Chiang S.-C.; Huang A.; YIN-HSIU CHIEN
臺大學術典藏 2005 Reye's syndrome developing in an infant on treatment of Kawasaki syndrome Hwu W.-L.; Ma C.-Y.; Chen C.-M.; PING-ING LEE; Chen H.-L.; Wei C.-M.; Wei C.-M.;Chen H.-L.;Ping-Ing Lee;Chen C.-M.;Ma C.-Y.;Hwu W.-L.
臺大學術典藏 2004 Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment Liu H.-M.; Hwu W.-L.; Chien Y.-H.; Peng S.S.-F.; Tseng W.-Y.I.
臺大學術典藏 2004 DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients Chen C.M.; Ro L.S.; Chen S.T.; Gwinn-Hardy K.; Yang C.C.; Wu R.M.; TA-FU CHEN; Wang H.C.; Chao M.C.; Hwu W.L.; Wu Y.R.; Wang C.K.; Wang C.K.;Wu Y.R.;Hwu W.L.;Chen C.M.;Ro L.S.;Chen S.T.;Gwinn-Hardy K.;Yang C.C.;Wu R.M.;Ta-Fu Chen;Wang H.C.;Chao M.C.;Chiu M.J.;Lu C.J.;Lee-Chen G.J.; Lee-Chen G.J.; Lu C.J.; Chiu M.J.
臺大學術典藏 2004 Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan YIN-HSIU CHIEN; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; Chiang B.-L.
臺大學術典藏 2004 Distal Arthrogryposis in Two Sisters Born to Different Fathers [4] Hsu C.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏 2004 Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome. YIN-HSIU CHIEN; Hwu W.L.; Ariga T.
臺大學術典藏 2004 Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan Chien Y.-H.;Hwu W.-L.;Ariga T.;Chang K.-W.;Yao-Hsu Yang;Lin K.-H.;Chiang B.-L.; Chien Y.-H.; Hwu W.-L.; Ariga T.; Chang K.-W.; YAO-HSU YANG; Lin K.-H.; Chiang B.-L.
臺大學術典藏 2004 Terminal deletion of chromosome 2q associated with Graves' disease: A case report and literature review Hwu W.-L.; Chu S.-Y.; Tsai W.-Y.; YIN-HSIU CHIEN; Fang J.-S.; Ku C.-W.; Chang P.-Y.

Showing items 736-760 of 770  (31 Page(s) Totally)
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