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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
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.
國立臺灣大學 2005-04 Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C Yang, CC; Su, YN; Chiou, PC; Fietz, MJ; Yu, CL; Hwu, WL; Lee, MJ
國立臺灣大學 2005-02 Mapping of psoriasis to 17q terminus Hwu, WL; Yang, CF; Fann, CS; Chen, CL; 蔡呈芳; Chien, YH; Chiang, SC; Chen, CH; Hung, SI; Wu, JY; Chen, YT
國立臺灣大學 2004-07 DNA haplotype analysis of CAG repeat in Taiwanese Huntington’s disease patients Wang, CK; Wu, YR; Hwu, WL; Chen, CM; Ro, LS; Chen, ST; Gwinn-Hardy, K; Yang, CC; Wu, RM; Chen, TF; Wang, HC; Chao, MC; Chiu, MJ; Lu, CJ; Lee-Chen, GJ
臺北醫學大學 2004 DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients 汪漢澄; Wang CK; Wu YR; Hwu WL; Chen CM; Ro LS; Chen ST. Gwinn-Hardy K. Yang CC. Wu RM. Chen TF. Wang HC. Chao MC. Chiu MJ. Lu CJ. Lee-Chen GJ
臺北醫學大學 2004 DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients 汪漢澄; Wang CK; Wu YR; Hwu WL; Chen CM; Ro LS; Chen ST. Gwinn-Hardy K. Yang CC. Wu RM. Chen TF. Wang HC. Chao MC. Chiu MJ. Lu CJ. Lee-Chen GJ
中國醫藥大學 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, CP; Lin, SP; Tzen, CY; Tsai, FJ; Hwu, WL; Wan, WS
國立臺灣大學 2000-07 Metabolic disorders mimicking Reye syndrome. Chang, PF; Huang, SF; Hwu, WL; Hou, JW; Ni, YH; Chang, MH.
中國醫藥大學 1998 Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome Tsai, FJ; Hwu, WL; Lin, SP; Chang, JG; Wang, TR; Tsai, CH

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