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机构 日期 题名 作者
國立臺灣大學 2013 Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation Chen, Yi-Chen; Chien, Yin-Hsiu; Chen, Pin-Wen; Tang, Nelson Leung-Sang; Chiu, Pao-Chin; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2013 Promising outcomes in glutaric aciduria type I patients detected by newborn screening Lee, Chee-Seng; Chien, Yin-Hsiu; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 李妮鍾; 黃愛珠; 簡穎秀
國立臺灣大學 2013 Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi; 胡務亮; 蔡紫薰; 許巍鐘; 陳俊安; 李妮鍾; 簡穎秀; 謝正宜
國立臺灣大學 2013 Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests Wang, Li-Yun; Chen, Nien-I; Chen, Pin-Wen; Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟
國立臺灣大學 2013 Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 曾凱元; 李妮鍾; 簡穎秀; 吳瑞美
國立臺灣大學 2013 Lung toxicity of hydroxypropyl-beta-cyclodextrin infusion Chien, Yin-Hsiu; Shieh, Yih-Dar; Yang, Chi-Yu; Lee, Ni-Chung; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2013 Pompe Disease: Early Diagnosis and Early Treatment Make a Difference Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2013 Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots Johnson, Britt; Mascher, Hermann; Mascher, Daniel; Legnini, Elisa; Hung, Christina Y.; Dajnoki, Angela; Chien, Yin-Hsiu; Marodi, Laszlo; Hwu, Wuh-Liang; Bodamer, Olaf A.; 胡務亮; 簡穎秀
國立臺灣大學 2013 Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G > A mutation Chien, Yin-Hsiu; Bodamer, Olaf A.; Chiang, Shu-Chuan; Mascher, Hermann; Hung, Christina; Hwu, Wuh-Liang; 胡務亮; 簡穎秀; 蔣書娟
國立臺灣大學 2013 Restoration of the Motor and Behavior Phenotype with AAV9 in Aromatic L-Amino Acid Decarboxylase Deficiency Mice Lee, Ni-Chung; Chien, Yin-Hsiu; Muramatsu, Shin-ichi; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀

显示项目 91-100 / 326 (共33页)
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