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机构 日期 题名 作者
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.

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