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Showing items 61-85 of 313 (13 Page(s) Totally)
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| 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 |
| 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
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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
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Lee, Ni-Chung; Chien, Yin-Hsiu; Muramatsu, Shin-ichi; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan (vol 98, pg 72, 2009)
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Lin, Hsiang-Yu; Chen, Ming-Ren; Chuang, Chih-Kuang; Chen, Chih-Ping; Lin, Dar-Shong; Chien, Yin-Hsiu; Ke, Yu-Yuan; Tsai, Fuu-Jen; Pan, Hui-Ping; Lin, Shio-Jean; Hwu, Wuh-Liang; Niu, Dau-Ming; Lee, Ni-Chung; Lin, Shuan-Pei; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
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Chen, Szu-Ta; Su, Yi-Ning; Ni, Yen-Hsuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; Chang, Cheng-Chi; Chen, Huey-Ling; Chang, Mei-Hwei; 胡務亮; 倪衍玄; 張美惠; 張正琪; 李妮鍾; 簡穎秀; 蘇怡寧; 陳思達; 陳慧玲 |
| 國立臺灣大學 |
2012 |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
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Kuo, Wen-Hong; Lin, Po-Han; Huang, Ai-Chu; Chien, Yin-Hsiu; Liu, Tsang-Pai; Lu, Yen-Shen; Bai, Li-Yuan; Sargeant, Aaron M.; Lin, Ching-Hung; Cheng, Ann-Lii; Hsieh, Fon-Jou; Hwu, Wuh-Liang; Chang, King-Jen; 胡務亮; 郭文宏; 盧彥伸; 張金堅; 謝豐舟; 鄭安理; 黃愛珠; 簡穎秀; 林柏翰; 林璟宏 |
| 國立臺灣大學 |
2012 |
Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation
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Li, Sing-Chung; Hwu, Wuh-Liang; Lin, Ju-Li; Bali, Deeksha S.; Yang, Chen; Chu, Shih-Ming; Chien, Yin-Hsiu; Chou, Hung-Chieh; Chen, Chien-Yi; Hsieh, Wu-Shiun; Tsao, Po-Nien; Chen, Yuan-Tsong; Lee, Ni-Chung; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease
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Chien, Yin-Hsiu; Lee, Ni-Chung; Huang, Pei-Hsin; Lee, Wang-Tso; Thurberg, Beth L.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀; 黃佩欣 |
| 國立臺灣大學 |
2012 |
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency
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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 J.; 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 |
2012 |
PSORS2 Is Due to Mutations in CARD14
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Jordan, Catherine T.; Cao, Li; Roberson, Elisha D. O.; Pierson, Katherine C.; Yang, Chi-Fan; Joyce, Cailin E.; Ryan, Caitriona; Duan, Shenghui; Helms, Cynthia A.; Liu, Yin; Chen, Yongqing; McBride, Alison A.; Hwu, Wuh-Liang; Wu, Jer-Yuarn; Chen, Yuan-Tsong; Menter, Alan; Goldbach-Mansky, Raphaela; Lowes, Michelle A.; Bowcock, Anne M.; 胡務亮 |
| 國立臺灣大學 |
2012 |
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
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Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Hsu, Li-Wen; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟; 徐儷文 |
| 國立臺灣大學 |
2012 |
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
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Hwu, Wuh-Liang; Okuyama, Torayuki; But, Wai Man; Estrada, Sylvia; Gu, Xuefan; Hui, Joannie; Kosuga, Motomichi; Lin, Shuan-Pei; Ngu, Lock-Hock; Shi, Huiping; Tanaka, Akemi; Thong, Meow-Keong; Wattanasirichaigoon, Duangrurdee; Wasant, Pornswan; McGill, Jim; 胡務亮 |
| 國立臺灣大學 |
2012 |
Genome-Wide Gene Expression Analysis Implicates the Immune Response and Lymphangiogenesis in the Pathogenesis of Fetal Chylothorax
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Yeang, Chen-Hsiang; Ma, Gwo-Chin; Shih, Jin-Chung; Yang, Yu-Shih; Chen, Chih-Ping; Chang, Shun-Ping; Wu, Sheng-Hai; Liu, Chin-San; Kuo, Shou-Jen; Chou, Hung-Chieh; Hwu, Wuh-Liang; Cameron, Alan D.; Ginsberg, Norman A.; Lin, Yi-Shing; Chen, Ming; 楊友仕; 施景中; 胡務亮; 周弘傑; 陳明 |
| 國立臺灣大學 |
2012 |
A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child
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Liu, Hsin-Ming; Tsai, Li-Ping; Chien, Yin-Hsiu; Wu, Jia-Feng; Weng, Wen-Chin; Peng, Shinn-Forng; Wu, En-Ting; Huang, Pei-Hsin; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 吳恩婷; 吳嘉峰; 蔡宜蓉; 李旺祚; 李妮鍾; 簡穎秀; 黃佩欣; 翁妏謹 |
| 中國醫藥大學 |
2011-01 |
Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening
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蔡輔仁(Fuu-Jen Tsai);胡務亮* |
| 國立臺灣大學 |
2011 |
Monitoring Urinary Glucose Tetrasaccharide Biomarker in Patients with Infantile and Late-Onset Pompe Disease Identified through Newborn Screening
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2011 |
The Use of Dried Blood Spot Samples in the Diagnosis of Lysosomal Storage Disorders - Current Status and Perspectives
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胡務亮; HWU, WUH-LIANG |
| 臺大學術典藏 |
2010-06-29T03:14:39Z |
Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring
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Yee, J.; Tylki-Szymanska, A.; Pastores, G. M.; Mistry, P. K.; Martins, A. M.; Maas, M.; Hwu, P.; Hollak, C. E. M.; Grabowski, G. A.; Goldblatt, J.; Dahl, S. vom; 胡務亮; Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D.; Dahl, S. vom; Goldblatt, J.; Grabowski, G. A.; Hollak, C. E. M.; Hwu, P.; Maas, M.; Martins, A. M.; Mistry, P. K.; Pastores, G. M.; Tylki-Szymanska, A.; Yee, J.; Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D. |
| 中國醫藥大學 |
2010-04 |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
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林瑋德(Wei-De Lin); 周宜卿(I-Ching Chou); 李妮鐘(Ni-Chung Lee); 王仲興(Chung-Hsing Wang); 胡務亮; 林炫沛(Shuan-Pei Lin); 趙美琴(Mei-Chyn Chao); 蔡育勳(Yuhsin Tsai); 蔡輔仁(Fuu-Jen Tsai)* |
| 國立臺灣大學 |
2010 |
Dysmyelination in Early-Treated Patients with Glutaric Aciduria Type 1
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李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Complex Rearrangements between Chromosomes 6, 10, and 11 with Multiple Deletions at Breakpoints
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李妮鍾; 陳明; 馬國欽; 李東杰; 王慈柔; 柯瑜媛; 簡穎秀; 胡務亮; LEE, NI-CHUNG; CHEN, MING; MA, GWO-CHIN; LEE, DONG-JAY; WANG, TZU-JOU; KE, YU-YUAN; CHIEN, YIN- HSIU; HWU, WUH-LIANG |
Showing items 61-85 of 313 (13 Page(s) Totally)
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