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"hwu wl"
Showing items 6-33 of 33 (1 Page(s) Totally)
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| 國立臺灣大學 |
2008-07 |
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
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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
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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
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(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
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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.
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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.
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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
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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.
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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.
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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
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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
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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
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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
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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
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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
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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.
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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
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Tsai, FJ; Hwu, WL; Lin, SP; Chang, JG; Wang, TR; Tsai, CH |
Showing items 6-33 of 33 (1 Page(s) Totally)
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