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

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	2019臺灣學術機構典藏研討會
	機構典藏系統RC7版本已發佈

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Institution	Date	Title	Author
臺大學術典藏	2018-09-10T06:49:59Z	Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program	Chien, YH;Chiang, SC;Zhang, XK;Keutzer, J;Lee, NC;Huang, AC;Chen, CA;Wu, MH;Huang, PH;Tsai, FJ;Chen, YT;Hwu, WL; Chien, Y.-H. and Chiang, S.-C. and Zhang, X.K. and Keutzer, J. and Lee, N.-C. and Huang, A.-C. and Chen, C.-A. and Wu, M.-H. and Huang, P.-H. and Tsai, F.-J. and Chen, Y.-T. and Hwu, W.-L.; CHUN-AN CHEN; Chien, YH; Chiang, SC; NI-CHUNG LEE; MEI-HWAN WU; Zhang, XK; YIN-HSIU CHIEN; Keutzer, J; WUH-LIANG HWU; Lee, NC; Huang, AC; PEI-HSIN HUANG; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL
臺大學術典藏	2018-09-10T06:12:49Z	Computer simulation of hemodynamic changes after right lobectomy in a liver with intrahepatic portal vein aneurysm	Ho, C.-M. and Tsai, S.-F. and Lin, R.-K. and Liang, P.-C. and Sheu, T.W.-H. and Hu, R.-H. and Lee, P.-H.; Sheu, Tony W. H.; Ho, C. M.; Tsai, S. F.; Lin, R. K.; Liang, P. C.; Hu, R. H.; Lee, P. H.; PO-HUANG LEE; Hsieh, CT; Sheu, Tony W. H.; PO-CHIN LIANG; Hwu, WL; Ho, C. M.; Huang, YT; REY-HENG HU; Tsai, S. F.; Lin, R. K.; CHENG-MAW HO; Huang, AC; Wang, SF; Liang, P. C.; Hu, MH; Hu, R. H.; Chien, YH.; Lee, P. H.
國立臺灣大學	2010	Phenotypic Analyses and Mutation Screening of the SLC26A4 and FOXI1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (DFNB4) or Pendred Syndrome	Wu, CC; Lu, YC; Chen, PJ; Yeh, PL; Su, YN; Hwu, WL; Hsu, CJ
國立臺灣大學	2009-04	Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment	Wu, CC; Lu, YC; Chen, PJ; Liu, AY; Hwu, WL; Hsu, CJ
國立臺灣大學	2008-11	Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia.	Lee, NC; Chien, YH; Peng, SF; Huang, AC; Liu, TT; Wu, AS; Chen, LC; Hsu, LW; Tseng, SC; Hwu, WL.
國立臺灣大學	2008-07	Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.	Chien, YH; Chiang, SC; Zhang, XK; Keutzer, J; Lee, NC; Huang, AC; Chen, CA; Wu, MH; Huang, PH; Tsai, FJ; Chen, YT; Hwu, WL
亞洲大學	2008-05	Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II	Lei Wan;Cheng-Chun Lee;Chin-Moo Hsu;Hwu WL;Yang CC;Chang-Hai Tsai;Fuu-Jen Tsai
國立臺灣大學	2008-05	Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.	Wan, L; Lee, CC; Hsu, CM; Hwu, WL; Yang, CC; Tsai, CH; Tsai, FJ
國立臺灣大學	2008-05	Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation.	Wang, CC; Hwu, WL; Lin, KH.
中國醫藥大學	2008-05	Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.	萬磊(Lei Wan); 李正淳(Cheng-Chun Lee); 許欽木(Chin-Moo Hsu); (Hwu WL); (Yang CC); 蔡長海(Chang-Hai Tsai); 蔡輔仁(Fuu-Jen Tsai)*
國立臺灣大學	2008-04	Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease.	Huang, PK; Wang, CC; Chiu, SN; Wu, ET; Chien, YH; Hwu, WL; Wang, JK; Wu, MH.
國立臺灣大學	2008-04	Detection and imaging of non-contractile inclusions and sarcomeric anomalies in skeletal muscle by second harmonic generation combined with two-photon excited fluorescence.	Ralston, E; Swaim, B; Czapiga, M; Hwu, WL; Chien, YH; Pittis, MG; Bembi, B; Schwartz, O; Plotz, P; Raben, N
國立臺灣大學	2008-03	Screening for Pompe disease and Fabry disease.	Hwu, WL; Chien, YH; Lee, NC.
國立臺灣大學	2008-02	A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis.	Yang, CF; Hwu, WL; Yang, LC; Chung, WH; Chien, YH; Hung, CF; Chen, HC; Tsai, PJ; Fann, CS; Liao, F; Chen, YT.
國立臺灣大學	2008-02	Early detection of glutaric aciduria type I by newborn screening in Taiwan.	Hsieh, CT; Hwu, WL; Huang, YT; Huang, AC; Wang, SF; Hu, MH; Chien, YH.
國立臺灣大學	2008-01	Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein.	Chiou, YW; Hwu, WL; Lee, YM.
國立臺灣大學	2007-07	Identification and management of cardiac perforation from a double lumen catheter in an infant.	Wang, CC; Chen, YW; Wu, ET; Chien, YS; Hwu, WL; Ko, WJ; Huang, SC
國立臺灣大學	2007-06	Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year.	Chien, YH; Lee, NC; Tsai, LK; Huang, AC; Peng, SF; Chen, SJ; Hwu, WL
中國醫藥大學	2006-11	Establishing a standardized therapeutic testing protocol for spinal muscular atrophy	(Tsai LK); (Tsai MS); 林則彬; (Hwu WL); (Li H)*
國立臺灣大學	2006-08	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type	Lee, MJ; Su, YN; You, HL; Chiou, SC; Lin, LC; Yang, CC; Lee, WC; Hwu, WL; Hsieh, FJ; Stephenson, DA; Yu, CL
國立臺灣大學	2006-07	Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.	Lee, NC; Chien, YH; Kobayashi, K; Saheki, T; Chen, HL; Chiu, PC; Ni, YH; Chang, MH; Hwu, WL.
國立臺灣大學	2006-07	Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.	Yeh, JN; Jeng, YM; Chen, HL; Ni, YH; Hwu, WL; Chang, MH.
亞洲大學	2006-05	Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations	Lei Wan;Hsu CM;Chang-Hai Tsai;Lee,Chun-Cheng;Hwu WL;Tsai,Fuu-Jen
國立臺灣大學	2006	Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.	Lee, MJ; Su, YN; You, HL; Chiou, SC; Lin, LC; Yang, CC; Lee, WC; Hwu, WL; Hsieh, FJ; Stephenson, DA; Yu, CL.
國立臺灣大學	2005-07	Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.	Huang, HP; Chien, YH; Huang, LM; Ni, YH; Chang, MH; Ho, MC; Lee, PH; Hwu, WL.

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