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Showing items 31-55 of 313 (13 Page(s) Totally)
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| 國立臺灣大學 |
2016 |
Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene
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Lee, Ni-Chung; Lee, Yu-May; Chen, Pin-Wen; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾 |
| 國立臺灣大學 |
2015 |
Incidence of severe combined immunodeficiency through newborn screening in a Chinese population
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Chien, Yin-Hsiu; Chian, Shu-Chuan; Chang, Kai-Ling; Yu, Hsin-Hui; Lee, Wen-I; Tsai, Li-Ping; Hsu, Li-Wen; Hu, Min-Huei; Hwu, Wuh-Liang; 胡務亮; 簡穎秀; 俞欣慧; 徐儷文 |
| 國立臺灣大學 |
2015 |
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
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Chien, Yin-Hsiu; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Shieh, Jeng-Yi; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang; 胡務亮; 許巍鐘; 陳俊安; 李妮鍾; 簡穎秀; 謝正宜 |
| 國立臺灣大學 |
2015 |
Mortality, disability, and intensive care in patients with mitochondrial 3243A > G mutation
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Hsiue, Han-Chung; Lee, Ni-Chung; Tsai, Hung-Bin; Yang, Chih-Chao; Wu, Chao-Szu; Lee, Wang-Tso; Weng, Wen-Chin; Fan, Pi-Chuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hung, Kun-Long; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Wang, Tzu-Jou; Lu, Chien-Jung; Lee, Pei-Lin; 胡務亮; 楊智超; 李佩玲; 范碧娟; 李旺祚; 李妮鍾; 薛涵中; 簡穎秀; 翁妏謹; 蔡宏斌 |
| 國立臺灣大學 |
2015 |
Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
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Chien, Yin-Hsiu; Abdenur, Jose E.; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G.; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H.; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Buergi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G.; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2015 |
An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
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Hwu, Wuh-Liang; Muramatsu, Shin-Ichi; Lee, Ni-Chung; Chien, Yin-Hsiu; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 李妮鍾; 簡穎秀; 吳瑞美 |
| 國立臺灣大學 |
2015 |
Pincer nail deformity as the main manifestation of Clouston syndrome
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Hu, Y. -H.; Lin, Y. -C.; Hwu, W. -L.; Lee, Y. -M.; 胡務亮 |
| 國立臺灣大學 |
2015 |
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
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Lee, Ni-Chung; Muramatsu, Shin-ichi; Chien, Yin-Hsiu; Liu, Wen-Shin; Wang, Wei-Hua; Cheng, Chia-Hao; Hu, Meng-Kai; Chen, Pin-Wen; Tzen, Kai-Yuan; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 曾凱元; 李妮鍾; 簡穎秀 |
| 國立臺灣師範大學 |
2014-10-27T15:26:07Z |
臺灣一位Hurler型黏多醣儲積症(MPS IH)患者的IDUA基因突變分析及記述
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鄧燕妮; 李桂楨; 王作仁; 胡務亮; Yen-Ni Teng, Guey-Jen Lee-Chen, Tso-Ren Wang ,and Tuh-Liang Hwu |
| 國立臺灣師範大學 |
2014-10-27T15:26:07Z |
臺灣一位Hurler型黏多醣儲積症(MPS IH)患者的IDUA基因突變分析及記述
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鄧燕妮; 李桂楨; 王作仁; 胡務亮; Yen-Ni Teng, Guey-Jen Lee-Chen, Tso-Ren Wang ,and Tuh-Liang Hwu |
| 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 |
Showing items 31-55 of 313 (13 Page(s) Totally)
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