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| 臺大學術典藏 |
2022-09-20T07:27:47Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
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Tai, Chun-Hwei; Lee, Ni-Chung; Chien, Yin-Hsiu; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2022-09-06T02:04:47Z |
The diversity of hereditary neuromuscular diseases: Experiences from molecular diagnosis
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Hsueh, Hsueh-Wen; Weng, Wen-Chin; Fan, Pi-Chuan; Chien, Yin-Hsiu; Yang, Feng-Jung; WANG-TSO LEE; Lin, Ru-Jen; Hwu, Wuh-Liang; Yang, Chih-Chao; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-06-17T07:01:50Z |
Novel Compound Heterozygous Variants in TBCD Gene Associated with Infantile Neurodegenerative Encephalopathy
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Chen, Chih-Ling; CHIEN-NAN LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Chang, Tung-Ming; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-04-01T07:28:43Z |
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
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Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; YI-CHING TUNG |
| 臺大學術典藏 |
2022-03-10T06:22:49Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
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NI-CHUNG LEE; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; Hwu, Wuh-Liang; Chien, Yin-Hsiu |
| 臺大學術典藏 |
2022-03-10T06:14:07Z |
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
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Tsai, Meng-Ju Melody; NI-CHUNG LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-12-24T02:48:28Z |
Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency
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Tai, Chun-Hwei; Lee, Ni-Chung; Chien, Yin-Hsiu; Byrne, Barry J; Muramatsu, Shin-Ichi; SHENG-HONG TSENG; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2021-12-24T02:28:17Z |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
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Chen, Szu-Ju; BO-CHING LEE; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lin, Chin-Hsien |
| 臺大學術典藏 |
2021-10-06T08:13:22Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
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Lin, Shin-Yu; GWO-TSANN CHUANG; Hung, Chien-Hui; Lin, Wei-Chou; Jeng, Yung-Ming; TING-AN YEN; Chang, Karine; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Chien-Nan; Tsai, I-Jung; Lee, Ni-Chung |
| 臺大學術典藏 |
2021-09-28T05:41:39Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
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SHIN-YU LIN; Chuang, Gwo-Tsann; Hung, Chien-Hui; Lin, Wei-Chou; Jeng, Yung-Ming; TING-AN YEN; Chang, Karine; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Chien-Nan; Tsai, I-Jung; Lee, Ni-Chung |
| 臺大學術典藏 |
2021-06-25T08:17:46Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; SHIH-YAO LIU; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-25T08:10:47Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-25T08:03:19Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; YI-CHING TUNG |
| 臺大學術典藏 |
2021-06-10T07:27:58Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
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Weng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2021-06-10T07:26:30Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-10T07:01:45Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
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Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-03-02T07:48:30Z |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
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Hwa, Hsiao-Lin; MING-YIH WU; Lee, James Chun-I; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; Hwu, Wuh-Liang; Su, Chih-Wen |
| 臺大學術典藏 |
2020-12-10T01:05:24Z |
Towards a reference genome that captures global genetic diversity
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Wong, Karen H. Y.; Ma, Walfred; Wei, Chun-Yu; Yeh, Erh-Chan; Lin, Wan-Jia; Wang, Elin H. F.; Su, Jen-Ping; Hsieh, Feng-Jen; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Chow, Stephen K.; Young, Eleanor; Chu, Catherine; Poon, Annie; Yang, Chi-Fan; Lin, Dar-Shong; Hu, Yu-Feng; Wu, Jer-Yuarn; NI-CHUNG LEE; Hwu, Wuh-Liang; Boffelli, Dario; Martin, David; Xiao, Ming; Kwok, Pui-Yan |
| 臺大學術典藏 |
2020-07-31T08:36:49Z |
Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness
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Chao, Chi-Chao; SUNG-TSANG HSIEH; Hwu, Wuh-Liang; Yang, Chih-Chao; Huang, Pei-Hsin; Cheng, Chang-Yu; Chang, Kai-Chieh; Hsueh, Hsueh-Wen; Lee, Ni-Chung; Cheng, Chang-Yu;Chang, Kai-Chieh;Hsueh, Hsueh-Wen;Lee, Ni-Chung;Huang, Pei-Hsin;Yang, Chih-Chao;Hwu, Wuh-Liang;Sung-Tsang Hsieh;Chao, Chi-Chao |
| 國立交通大學 |
2020-07-01T05:22:08Z |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile -onset Pompe disease: Evidence from real -world experiences
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Chien, Yin-Hsiu; Tsai, Wen-Hui; Chang, Chaw-Liang; Chiu, Pao-Chin; Chou, Yen-Yin; Tsai, Fuu-Jen; Wong, Siew-Lee; Lee, Ni-Chung; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2020-05-04T08:08:31Z |
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; 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; WEI-CHUNG HSU |
| 臺大學術典藏 |
2020-05-04T08:08:29Z |
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; 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; WEI-CHUNG HSU |
| 臺大學術典藏 |
2020-02-10T09:00:35Z |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012
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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; SHAU-PING LIN |
| 臺大學術典藏 |
2020-02-10T09:00:35Z |
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
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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; SHAU-PING LIN |
| 臺大學術典藏 |
2020-02-10T09:00:35Z |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
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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; SHAU-PING LIN |
| 臺大學術典藏 |
2020-02-10T09:00:34Z |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN |
| 國立交通大學 |
2020-02-02T23:54:29Z |
Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses
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Lin, Hsiang-Yu; Lee, Chung-Lin; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Shio Jean; Lin, Ju-Li; Chang, Tung-Ming; Chuang, Chih-Kuang; Lin, Shuan-Pei |
| 臺大學術典藏 |
2020-02 |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
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Su, Chih-Wen; Hwu, Wuh-Liang; Li, Shwu-Fang; Hsu, Pi-Mei; Yin, Hsiang-I; Lee, James Chun-I; Wu, Ming-Yih; Hwa, Hsiao-Lin |
| 臺大學術典藏 |
2020 |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
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Chien, Yin-Hsiu; Lee, Ni-Chung; Hwu, Wuh-Liang; PEY-RONG CHEN; Yang, Feng-Jung; Weng, Hui-Ling;Yang, Feng-Jung;Pey-Rong Chen;Hwu, Wuh-Liang;Lee, Ni-Chung;Chien, Yin-Hsiu; Weng, Hui-Ling |
| 臺大學術典藏 |
2020 |
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
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PEY-RONG CHEN; Chien, Yin-Hsiu; Weng, Hui-Ling; Yang, Feng-Jung; Weng, Hui-Ling;Yang, Feng-Jung;Chien, Yin-Hsiu;Pey-Rong Chen;Lin, Zi-Xuan;Lee, Ni-Chung;Hwu, Wuh-Liang; Lin, Zi-Xuan; Lee, Ni-Chung; Hwu, Wuh-Liang |
| 國立交通大學 |
2019-12-13T01:12:23Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses*
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Wu, En-Ting; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Hsu, Ching; Chen, Ting-Fu; Chen, Nai-Qi; Chou, Hung-Chieh; Tsao, Po-Nien; Fan, Pi-Chuan; Tsai, I-Jung; Lin, Shuan-Pei; Hsieh, Wu-Shiun; Chang, Tung-Ming; Chen, Chi-Nien; Lee, Chen-Hao; Chou, Yen-Yin; Chiu, Pao-Chin; Tsai, Wen-Hui; Hsiung, Hann-Chang; Lai, Feipei; Lee, Ni-Chung |
| 國立交通大學 |
2019-09-02T07:46:11Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
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Lee, Chung-Lin; Lin, Hsiang-Yu; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Ru-Yi; Huang, You-Hsin; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Chiu, Pao-Chin; Niu, Dau-Ming; Chen, Yann-Jang; Chao, Mei-Chyn; Chang, Tung-Ming; Lin, Ju-Li; Chang, Chia-Ying; Kao, Yu-Chia; Lin, Shuan-Pei |
| 國立交通大學 |
2019-04-02T06:00:47Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
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Lin, Hsiang-Yu; Chuang, Chih-Kuang; Lee, Chung-Lin; Tu, Ru-Yi; Lo, Yun-Ting; Chiu, Pao Chin; Niu, Dau-Ming; Fang, Yi-Ya; Chen, Tzu-Lin; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Shio Jean; Chang, Tung-Ming; Lin, Shuan-Pei |
| 臺大學術典藏 |
2019 |
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
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Chuang, Chih-Kuang; Lin, Hsiang-Yu; Lin, Hsiang-Yu;Chuang, Chih-Kuang;Ke, Yu-Yuan;Hsu, Chia-Chi;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Lin, Ju-Li;Lin, Shuan-Pei; Ke, Yu-Yuan; Hsu, Chia-Chi; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN |
| 臺大學術典藏 |
2018-09-10T15:37:01Z |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme
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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; Lin, H.-Y. and Chuang, C.-K. and Huang, Y.-H. and Tu, R.-Y. and Lin, F.-J. and Lin, S.J. and Chiu, P.C. and Niu, D.-M. and Tsai, F.-J. and Hwu, W.-L. and Chien, Y.-H. and Lin, J.-L. and Chou, Y.-Y. and Tsai, W.-H. and Chang, T.-M. and Lin, S.-P.; 胡務亮;簡穎秀; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Chuang, Chih-Kuang; WUH-LIANG HWU; 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 |
| 臺大學術典藏 |
2018-09-10T15:34:03Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
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YIN-HSIU CHIEN; Tsai, Fuu-Jen; WUH-LIANG HWU; Tsai, Wen-Hui; Chien, Yin-Hsiu; Lee, Ni-Chung; Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; STEVEN SHINN-FORNG PENG; Peng, S.S.-F. and Hwu, W.-L. and Lee, N.-C. and Tsai, F.-J. and Tsai, W.-H. and Chien, Y.-H.; 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; NI-CHUNG LEE |
| 臺大學術典藏 |
2018-09-10T15:26:42Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
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Wu, Chao-Szu; Lee, Wang-Tso; Lee, Wang-Tso; WEN-CHIN WENG; YIN-HSIU CHIEN; Weng, Wen-Chin; Weng, Wen-Chin; Fan, Pi-Chuan; WUH-LIANG HWU; Fan, Pi-Chuan; Chien, Yin-Hsiu; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hwu, Wuh-Liang; Hung, Kun-Long; Hung, Kun-Long; Huang, Chao-Ching; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Chu, Shao-Yin; Wang, Tzu-Jou; Wang, Tzu-Jou; Lu, Chien-Jung; Lu, Chien-Jung; Lee, Pei-Lin; Lee, Pei-Lin; Wu, Chao-Szu; PEI-LIN LEE; Chai, Huei-Ming; Yang, Chih-Chao; Hsiue, H.-C. and Lee, N.-C. and Tsai, H.-B. and Yang, C.-C. and Wu, C.-S. and Lee, W.-T. and Weng, W.-C. and Fan, P.-C. and Chien, Y.-H. and Hwu, W.-L. and Hung, K.-L. and Huang, C.-C. and Chen, C.-H. and Lin, S.-J. and Chu, S.-Y. and Wang, T.-J. and Lu, C.-J. and Lee, P.-L.; 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; 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; Hsiue, Han-Chung; NI-CHUNG LEE; Hsiue, Han-Chung; Lee, Ni-Chung; PI-CHUAN FAN; Lee, Ni-Chung; Tsai, Hung-Bin; WANG-TSO LEE; Tsai, Hung-Bin; HUNG-BIN TSAI; Yang, Chih-Chao |
| 臺大學術典藏 |
2018-09-10T15:26:41Z |
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; Yin-Hsiu Chien and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Jeng-Yi Shieh and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Wuh-Liang Hwu; 胡務亮;許巍鐘;陳俊安;李妮鍾;簡穎秀;謝正宜; CHUN-AN CHEN; Chien, Yin-Hsiu; Lee, Ni-Chung; NI-CHUNG LEE; Chen, Chun-An; JENG-YI SHIEH; TZU-HSUN TSAI; Tsai, Fuu-Jen; YIN-HSIU CHIEN; Tsai, Wen-Hui; Shieh, Jeng-Yi; WUH-LIANG HWU; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T15:02:31Z |
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; Lee, N.-C. and Chien, Y.-H. and Wong, S.-L. and Sheen, J.-M. and Tsai, F.-J. and Peng, S.-F. and Leung, J.H. and Chao, M.-C. and Shun, C.-T. and Hwu, W.-L.; 胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟; Lee, Ni-Chung; NI-CHUNG LEE; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Wong, Siew-Lee; WUH-LIANG HWU; Chang, An-Chen; CHIA-TUNG SHUN; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; ?^?H?{ |
| 臺大學術典藏 |
2018-09-10T14:50:28Z |
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; Lin, C.-H. and Chien, Y.-H. and Peng, S.-F. and Tsai, W.-Y. and Tung, Y.-C. and Lee, C.-T. and Chien, C.-C. and Hwu, W.-L. and Lee, N.-C.; 蔡文友;胡務亮;童怡靖;彭信逢;李正婷;李妮鍾;簡穎秀; NI-CHUNG LEE; Lin, Chia-Hsuan; YI-CHING TUNG; Chien, Yin-Hsiu; CHENG-TING LEE; Peng, Shinn-Forng; YIN-HSIU CHIEN; Tsai, Wen-Yu; Tung, Yi-Ching; WUH-LIANG HWU; Lee, Cheng-Ting; WEN-YU TSAI; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T14:50:14Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
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胡務亮;吳恩婷;蔡宜蓉;黃書健;李妮鍾;簡穎秀;曹永魁; Tsai, I.-J. and Hwu, W.-L. and Huang, S.-C. and Lee, N.-C. and Wu, E.-T. and Chien, Y.-H. and Tsau, Y.-K.; Tsai, I-Jung;Hwu, Wuh-Liang;Huang, Shu-Chien;Lee, Ni-Chung;Wu, En-Ting;Chien, Yin-Hsiu;Tsau, Yong-Kwei; Tsai, I-Jung; NI-CHUNG LEE; Hwu, Wuh-Liang; YONG-KWEI TSAU; Huang, Shu-Chien; I-JUNG TSAI; YIN-HSIU CHIEN; Lee, Ni-Chung; SHU-CHIEN HUANG; Wu, En-Ting; Chien, Yin-Hsiu; WUH-LIANG HWU; Tsau, Yong-Kwei; EN-TING WU |
| 臺大學術典藏 |
2018-09-10T09:51:20Z |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
|
Yin-Hsiu Chien and Wuh-Liang Hwu and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Jeng-Yi Shieh; 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; Chien, Yin-Hsiu; YIN-HSIU CHIEN; 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 |
| 臺大學術典藏 |
2018-09-10T09:40:31Z |
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; Chien, Yin-Hsiu;Han, Der-Sheng;Hwu, Wuh-Liang;Thurberg, Beth L.;Yang, Wei-Shiung; Chien, Y.-H. and Han, D.-S. and Hwu, W.-L. and Thurberg, B.L. and Yang, W.-S.; 胡務亮 ;簡穎秀 ;楊偉勛; 胡務亮 ;簡穎秀 ;楊偉勛; Chien, Yin-Hsiu; WEI-SHIUNG YANG; YIN-HSIU CHIEN; Han, Der-Sheng; Han, Der-Sheng; Hwu, Wuh-Liang; Hwu, Wuh-Liang; DER-SHENG HAN; WUH-LIANG HWU; Thurberg, Beth L.; Yang, Wei-Shiung; Yang, Wei-Shiung |
| 臺大學術典藏 |
2018-09-10T09:40:30Z |
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; Lee, C.-S. and Chien, Y.-H. and Peng, S.-F. and Cheng, P.-W. and Chang, L.-M. and Huang, A.-C. and Hwu, W.-L. and Lee, N.-C.; 胡務亮 ;彭信逢 ;李妮鍾 ;黃愛珠 ;簡穎秀; NI-CHUNG LEE; Lee, Chee-Seng; YIN-HSIU CHIEN; Chien, Yin-Hsiu; WUH-LIANG HWU; Peng, Shinn-Forng; Cheng, Pin-Wen; Chang, Lih-Maan; Huang, Ai-Chu; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T09:16:21Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
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; Liu, H.-M. and Tsai, L.-P. and Chien, Y.-H. and Wu, J.-F. and Weng, W.-C. and Peng, S.-F. and Wu, E.-T. and Huang, P.-H. and Lee, W.-T. and Tsai, I.-J. and Hwu, W.-L. and Lee, N.-C.; 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; NI-CHUNG LEE; Liu, Hsin-Ming; WANG-TSO LEE; Tsai, Li-Ping; WEN-CHIN WENG; Chien, Yin-Hsiu; JIA-FENG WU; Wu, Jia-Feng; YIN-HSIU CHIEN; Weng, Wen-Chin; Peng, Shinn-Forng; I-JUNG TSAI; Wu, En-Ting; WUH-LIANG HWU; Huang, Pei-Hsin; PEI-HSIN HUANG; EN-TING WU; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T09:14:34Z |
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; Chien, Y.-H. and Lee, N.-C. and Huang, P.-H. and Lee, W.-T. and Thurberg, B.L. and Hwu, W.-L.; 胡務亮 ;李妮鍾 ;簡穎秀 ;黃佩欣; NI-CHUNG LEE; Chien, Yin-Hsiu; WANG-TSO LEE; Lee, Ni-Chung; YIN-HSIU CHIEN; Huang, Pei-Hsin; WUH-LIANG HWU; Lee, Wang-Tso; Thurberg, Beth L.; PEI-HSIN HUANG; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T09:14:30Z |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
|
Yeang, C.-H. and Ma, G.-C. and Shih, J.-C. and Yang, Y.-S. and Chen, C.-P. and Chang, S.-P. and Wu, S.-H. and Liu, C.-S. and Kuo, S.-J. and Chou, H.-C. and Hwu, W.-L. and Cameron, A.D. and Ginsberg, N.A. and Lin, Y.-S. and Chen, M.; 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; HUNG-CHIEH CHOU; Yeang, Chen-Hsiang; Ma, Gwo-Chin; MING CHEN; YU-SHIH YANG; Shih, Jin-Chung; JIN-CHUNG SHIH; Yang, Yu-Shih; WUH-LIANG HWU; 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 |
| 臺大學術典藏 |
2018-09-10T08:22:12Z |
遺傳檢測倫理議題及遺傳諮詢倫理準則
|
蔡甫昌(Daniel Fu-Chang Tsai);楊尚儒(Shang-Ju Yang);張至寧Chih-Ning Chang);胡務亮(Wuh-Liang Hwu);楊智超(Chih-Chao Yang); 蔡甫昌;楊尚儒;張至寧;胡務亮;楊智超; TSAI, FU-CHANG;YANG, SHANG-JU;CHANG, CHIH-NING;HWU, WUH-LIANG;YANG, CHIH-CHAO; 蔡甫昌; WUH-LIANG HWU; 楊尚儒; 張至寧; 胡務亮; 楊智超 |
| 臺大學術典藏 |
2018-09-10T07:43:55Z |
Clinical features of AADC-deficient children and therapeutic prospects
|
Wuh-Liang Hwu and Yin-Hsiu Chien and Ni-Chung Lee and Wang-Tso Lee and Ruey-Meei Wu; 胡務亮;簡穎秀;李妮鍾;李旺祚;吳瑞美; HWU, WUH-LIANG;CHIEN, YIN-HSIU;LEE, NI-CHUNG;LEE, WANG-TSO;WU, RUEY-MEEI; YIN-HSIU CHIEN; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LEE, WANG-TSO; WU, RUEY-MEEI |
| 臺大學術典藏 |
2018-09-10T07:04:16Z |
Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease
|
YUNG-MING JENG; Hui-Ling Chen; HUEY-LING CHEN; WUH-LIANG HWU; CHEN, HUEY-LING; CHEN, HUI-LING; HWU, WUH-LIANG; JENG, YUNG-MING; CHANG, MEI-HWEI; Chen, H.-L. and Wang, R. and Chen, H.-L. and Hwu, W.-L. and Jeng, Y.-M. and Chang, M.-H. and Ling, V.; 陳慧玲;陳惠玲;胡務亮;鄭永銘;張美惠; CHEN, HUEY-LING;CHEN, HUI-LING;HWU, WUH-LIANG;JENG, YUNG-MING;CHANG, MEI-HWEI; MEI-HWEI CHANG |
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