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Institution Date Title Author
臺大學術典藏 2018-09-10T06:50:06Z Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency 陳弘文;陳慧玲;倪衍玄;李妮鍾;簡穎秀;胡務亮;黃淵德;邱寶琴;張美惠; Chen, H.-W. and Chen, H.-L. and Ni, Y.-H. and Lee, N.-C. and Chien, Y.-H. and Hwu, W.-L. and Huang, Y.-T. and Chiu, P.-C. and Chang, M.-H.; CHEN, HUNG-WEN;CHEN, HUEY-LING;NI, YEN- HSUAN;LEE, NI-CHUNG;CHIEN, YIN-HSIU;HWU, WUH-LIANG;HUANG, YUAN-TE;CHIU, PAO-CHIN;CHANG, MEI-HWEI; NI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI
國立交通大學 2018-08-21T05:53:02Z Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening Chien, Yin-Hsiu; Chiang, Shu-Chuan; Weng, Wen-Chin; Lee, Ni-Chung; Lin, Ching-Jie; Hsieh, Wu-Shiun; Lee, Wang-Tso; Jong, Yuh-Jyh; Ko, Tsang-Ming; Hwu, Wuh-Liang
國立臺北護理健康大學 2017-05 Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease Zeng, Yin-Ting;Hwu, Wuh-Liang;Torng, Pao-Chuan;Lee, Ni-Chung;Shieh, Jeng-Yi;Lu, Lu;Chien, Yin-Hsiu
國立交通大學 2017-04-21T06:49:59Z Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians Chen, Wei-Hsin; Chen, Han-Ping; Tseng, Yi-Ju; Hsu, Kai-Ping; Hsieh, Sheau-Ling; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei
國立成功大學 2016-11-10 Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency Cheng, Wei-Chieh; Wang, Jen-Hon; Li, Huang-Yi; Lu, Sheng-Jhih; Hu, Jia-Ming; Yun, Wen-Yi; Chiu, Cheng-Hsin; Yang, Wen-Bin; Chien, Yin-Hsiu; Hwu, Wuh-Liang
國立成功大學 2016-06-27 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Lin, Hsiang-Yu;Chuang, Chih-Kuang;Huang, Yu-Hsiu;Tu, Ru-Yi;Lin, Fang-Ju;Lin, Shio Jean;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Lin, Ju-Li;Chou, Yen-Yin;Tsai, Wen-Hui;Chang, Tung-Ming;Lin, Shuan-Pei
國立成功大學 2016-06 Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series Lin, Hsiang-Yu; Chuang, Chih-Kuang; Wang, Chung-Hsing; Chien, Yin-Hsiu; Wang, Yu-Mei; Tsai, Fuu-Jen; Chou, Yen-Yin; Lin, Shio Jean; Pan, Hui-Ping; Niu, Dau-Ming; Hwu, Wuh-Liang; Ke, Yu-Yuan; Lin, Shuan-Pei
國立臺灣大學 2016 Advances in newborn screening for Pompe disease and resulting clinical outcomes Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort study Chien, Yin-Hsiu; Hwu, Wuh-Liang; Peng, Steven Shinn-Forng; 胡務亮; 彭信逢; 簡穎秀
國立臺灣大學 2016 Long-term outcome for Down syndrome patients with hematopoietic disorders Li, Meng-Ju; Lee, Ni-Chung; Yang, Yung-Li; Yen, Hsiu-Ju; Chang, Hsiu-Hao; Chien, Yin-Hsiu; Lu, Meng-Yao; Jou, Shiann-Tarng; Lin, Kai-Hsin; Hwu, Wuh-Liang; Lin, Dong-Tsamn; 李孟儒; 林東燦; 胡務亮; 周獻堂; 李妮鍾; 簡穎秀; 盧孟佑; 張修豪; 林凱信; 楊永立
國立臺灣大學 2016 AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMES Kanungo, Shibani; Hwu, Wuh-Liang; 胡務亮
國立臺灣大學 2016 Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; 胡務亮
國立臺灣大學 2016 Integrated care for Down syndrome Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; Lee, Ni-Chung; Tsai, Fuu-Jen; Tsai, Wen-Hui; Chien, Yin-Hsiu; 胡務亮; 彭信逢; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei; 胡務亮; 簡穎秀
國立臺灣大學 2016 3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency Chien, Yin-Hsiu; Chen, Pin-Wen; Lee, Ni-Chung; Hsieh, Wu-Shiun; Chiu, Pao-Chin; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Lin, Shuan-Pei; Chu, Shao-Yin; Jong, Yuh-Jyh; Chao, Mei-Chyn; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀
國立臺灣大學 2016 Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene Lee, Ni-Chung; Lee, Yu-May; Chen, Pin-Wen; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾
國立成功大學 2015-09 Mortality, disability, and intensive care in patients with mitochondrial 3243A > G mutation 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
國立臺灣大學 2015 Incidence of severe combined immunodeficiency through newborn screening in a Chinese population 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 Congenital Malformations in Newborns-A Challenge Unmet for Decades Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; 李妮鍾
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 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 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 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 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 Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency 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
國立交通大學 2014-12-08T15:31:33Z Web-Based Newborn Screening System for Metabolic Diseases: Machine Learning Versus Clinicians Chen, Wei-Hsin; Hsieh, Sheau-Ling; Hsu, Kai-Ping; Chen, Han-Ping; Su, Xing-Yu; Tseng, Yi-Ju; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lai, Feipei
國立臺灣大學 2014 Outcome of early-treated type III Gaucher disease patients 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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