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Showing items 41-65 of 313 (13 Page(s) Totally)
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| 國立臺灣師範大學 |
2014-10-27T15:01:56Z |
第一型黏多醋儲積症
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李桂柱; 程幼青; 賴秋雁; 劉美能; 胡務亮; 王作仁 |
| 中國醫藥大學 |
2014-06 |
Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses
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林瑋德(Wei-De Lin);胡務亮;王仲興(Chung-Hsing Wang);蔡輔仁(Fuu-Jen Tsai)* |
| 國立臺灣大學 |
2014 |
Outcome of early-treated type III Gaucher disease patients
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Lee, Ni-Chung; Chien, Yin-Hsiu; Wong, Siew-Lee; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; 胡務亮; 彭信逢; 李妮鍾; 簡穎秀; 孫家棟 |
| 國立臺灣大學 |
2014 |
PROMINENT VACUOLATION OF THE EYELID LEVATOR MUSCLE IN AN EARLY-TREATED CHILD WITH INFANTILE-ONSET POMPE DISEASE
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Chien, Yin-Hsiu; Lee, Ni-Chung; Tsai, Yueh-Ju; Thurberg, Beth L.; Tsai, Fuu-Jen; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Treatment of Congenital Neurotransmitter Deficiencies by Intracerebral Ventricular Injection of an Adeno-Associated Virus Serotype 9 Vector
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Lee, Ni-Chung; Chien, Yin-Hsiu; Hu, Min-Hsiu; Liu, Wen-Shin; Chen, Pin-Wen; Wang, Wei-Hua; Tzen, Kai-Yuan; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
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Tsai, I-Jung; Hwu, Wuh-Liang; Huang, Shu-Chien; Lee, Ni-Chung; Wu, En-Ting; Chien, Yin-Hsiu; Tsau, Yong-Kwei; 胡務亮; 吳恩婷; 蔡宜蓉; 黃書健; 李妮鍾; 簡穎秀; 曹永魁 |
| 國立臺灣大學 |
2014 |
Prominent vacuolation of the eyelid levator muscle in a child with infantile-onset Pompe disease treated since 2.5 months of age
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Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Chiu, Pao Chin; Ke, Yu-Yuan; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮 |
| 國立臺灣大學 |
2014 |
Diagnosis of aromatic L-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots
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Chen, Pin-Wen; Lee, Ni-Chung; Chien, Yin-Hsiu; Wu, Jia-Yun; Wang, Ping-Chun; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy
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Giugliani, Roberto; Hwu, Wuh-Liang; Tylki-Szymanska, Anna; Whiteman, David A. H.; Pano, Arian; 胡務亮 |
| 國立臺灣大學 |
2014 |
Systemic Administration of an AAV Vector Improved Survival and Autonomic Function in Young Mice with a Neurotransmitter Deficiency
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Lee, Ni-Chung; Muramatsu, Shin-ichi; Chien, Yin-Hsiu; Barry, J. Barry; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2014 |
Cyclic Pamidronate Infusion for Neonatal-onset Osteogenesis Imperfecta
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Lin, Chia-Hsuan; Chien, Yin-Hsiu; Peng, Shinn-Forng; Tsai, Wen-Yu; Tung, Yi-Ching; Lee, Cheng-Ting; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; 蔡文友; 胡務亮; 童怡靖; 彭信逢; 李正婷; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
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Chien, Yin-Hsiu; Han, Der-Sheng; Hwu, Wuh-Liang; Thurberg, Beth L.; Yang, Wei-Shiung; 胡務亮; 簡穎秀; 楊偉勛 |
| 國立臺灣大學 |
2013 |
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency
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Lee, Ni-Chung; Shieh, Yih-Dar; Chien, Yin-Hsiu; Tzen, Kai-Yuan; Yu, I-Shing; Chen, Pin-Wen; Hu, Min-Hsiu; Hu, Meng-kai; Muramatsu, Shin-ichi; Ichinose, Hiroshi; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Diagnosing mucopolysaccharidosis IVA
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Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J.; D' Almeida, Vania; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N.; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin
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Wang, Jing; Cui, Hong; Lee, Ni-Chung; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Craigen, William J.; Wong, Lee-Jun; Zhang, Victor Wei; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
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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 |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
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Chien, Y. H.; Peng, S. F.; Yang, C. C.; Lee, N. C.; Tsai, L. K.; Huang, A. C.; Su, S. C.; Tseng, C. C.; Hwu, W. L.; 胡務亮; 楊智超; 曾嫦嫦; 彭信逢; 蔡力凱; 蘇淑貞; 李妮鍾; 黃愛珠; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Promising outcomes in glutaric aciduria type I patients detected by newborn screening
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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
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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
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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
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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
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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
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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
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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 |
Showing items 41-65 of 313 (13 Page(s) Totally)
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