|
|
Taiwan Academic Institutional Repository >
Browse by Author
|
"lee ni chung"
Showing items 1-50 of 128 (3 Page(s) Totally)
1 2 3 > >>
View [10|25|50] records per page
| 臺大學術典藏 |
2022-09-20T07:27:47Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
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
|
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
|
Chen, Chih-Ling; CHIEN-NAN LEE; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Chang, Tung-Ming; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-05-17T06:07:32Z |
Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation
|
Su, Tzu-Hsuan; Lee, Ni-Chung; Wu, Chao-Szu; STEVEN SHINN-FORNG PENG; Fan, Pi-Chuan |
| 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
|
Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; Hwu, Wuh-Liang; YI-CHING TUNG |
| 臺大學術典藏 |
2022-03-17T03:07:48Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin, Ting-Wei; Hu, Ya-Chiao; Yang, Yao-Hsu; Chien, Yin-Hsiu; Lee, Ni-Chung; Yu, Hsin-Hui; Chiang, Bor-Luen; LI-CHIEH WANG |
| 臺大學術典藏 |
2022-03-09T06:42:54Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin, Yi-Lin; Chang, Pi-Chuan; Hsu, Ching; Hung, Miao-Zi; Chien, Yin-Hsiu; WUH-LIANG HWU; Lai, FeiPei; Lee, Ni-Chung |
| 臺大學術典藏 |
2022-03-09T06:18:20Z |
Short stature leads to a diagnosis of Jansen-de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai, Meng-Ju Melody; Lee, Ni-Chung; Chien, Yin-Hsiu; WUH-LIANG HWU; Tung, Yi-Ching |
| 臺大學術典藏 |
2022-03-09T06:10:32Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
Lee, Ni-Chung; Chang, Kai-Ling; In 't Groen, Stijn L M; de Faria, Douglas O S; Huang, Hsiang-Ju; Pijnappel, W W M Pim; WUH-LIANG HWU; Chien, Yin-Hsiu |
| 臺大學術典藏 |
2021-12-24T02:48:28Z |
Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency
|
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
|
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
|
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
|
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 |
2021-09-14T07:38:31Z |
Impact of genetic tests on survivors of paediatric sudden cardiac arrest
|
Chiu, Shuenn-Nan; Juang, Jyh-Ming Jimmy; WEI-CHIEH TSENG; Chen, Wen-Pin; Lee, Ni-Chung; Wu, Mei-Hwan |
| 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
|
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
|
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
|
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 |
2021-06-10T07:29:35Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN; Huang, Pei-Hsin; Yang, Chih-Chao |
| 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
|
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
|
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 |
2021-04-23T06:44:08Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; MING-JU HSIEH; Chao, Chi-Chao; Chien, Yin-Hsiu; Huang, Pei-Hsin; Yang, Chih-Chao |
| 臺大學術典藏 |
2020-07-31T08:36:49Z |
Thymidine kinase 2 deficiency-induced adult-onset ptosis and proximal weakness
|
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
|
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
|
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
|
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 |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
|
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
|
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*
|
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 |
| 臺大學術典藏 |
2019-11-21T12:24:28Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients With Severe Illnesses
|
CHIUNG-NIEN CHEN;Hsieh, Wu Shiun;Hsu, Ching;Lee, Ni Chung;Chen, Ting Fu; Chen, Ting Fu; Lee, Ni Chung; Hsu, Ching; Hsieh, Wu Shiun; CHIUNG-NIEN CHEN |
| 臺大學術典藏 |
2018-09-10T15:35:08Z |
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia
|
Tsai, Tzu-Hsun;Wang, Gen-shuh;PEI-HSIN HUANG;Ma, Hwong-wen;Huang, Pei-Hsin;Lee, Ni-Chung;TZU-HSUN TSAI;Chen, Yen-chuan;Fan, Chihhao;Hsiao, Chia-Chieh;NI-CHUNG LEE;Tsai, Tzu-Hsun;Huang, Pei-Hsin;Lee, Ni-Chung;Hsiao, Chia-Chieh;Tsai, Tzu-Hsun;Huang, Pei-Hsin;Lee, Ni-Chung;Hsiao, Chia-Chieh; Hsiao, Chia-Chieh; Lee, Ni-Chung; Huang, Pei-Hsin; Tsai, Tzu-Hsun; Hsiao, Chia-Chieh; Lee, Ni-Chung; Huang, Pei-Hsin; Tsai, Tzu-Hsun; NI-CHUNG LEE; Hsiao, Chia-Chieh; Fan, Chihhao; Chen, Yen-chuan; TZU-HSUN TSAI; Lee, Ni-Chung; Huang, Pei-Hsin; Ma, Hwong-wen; PEI-HSIN HUANG; Wang, Gen-shuh; Tsai, Tzu-Hsun |
| 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
|
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
|
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
|
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 |
2018-09-10T15:23:50Z |
The role of brain natriuretic peptide in predicting renal outcome and fluid management in critically ill patients
|
Chou, Yu-Hsiang;Chen, Yen-Fu;Pan, Szu-Yu;Huang, Tao-Min;Yang, Feng-Jung;Shen, Wen-Ching;Chen, Yung-Ming; Chou, Y.-H. and Chen, Y.-F. and Pan, S.-Y. and Huang, T.-M. and Yang, F.-J. and Shen, W.-C. and Chen, Y.-M.; 陳永銘;陳瑛芳;黃道民; Hsiao, Chia-Chieh; Chou, Yu-Hsiang; YUNG-MING CHEN; Chen, Yen-Fu; Lee, Ni-Chung; Huang, Pei-Hsin; Pan, Szu-Yu; Huang, Tao-Min; Tsai, Tzu-Hsun; Yang, Feng-Jung; Shen, Wen-Ching; Chen, Yung-Ming; 蔡紫薰; 李妮鍾; 黃佩欣 |
| 臺大學術典藏 |
2018-09-10T15:02:31Z |
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; 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
|
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
|
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 |
2018-09-10T09:40:30Z |
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 |
2018-09-10T09:14:42Z |
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia
|
Chang, K.-C. and Lin, P.-H. and Su, Y.-N. and Peng, S.S.-F. and Lee, N.-C. and Chou, H.-C. and Chen, C.-Y. and Hsieh, W.-S. and Tsao, P.-N.; Chang, Kai-Chi;Lin, Po-Han;Su, Yi-Ning;Peng, Steven Shinn-Forng;Lee, Ni-Chung;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien; 周弘傑 ;彭信逢 ;曹伯年 ;謝武勳 ;李妮鍾 ;蘇怡寧 ;林柏翰 ;陳倩儀; WU-SHIUN HSIEH; Chang, Kai-Chi; Lin, Po-Han; HUNG-CHIEH CHOU; NI-CHUNG LEE; Su, Yi-Ning; Peng, Steven Shinn-Forng; PO-HAN LIN; Lee, Ni-Chung; STEVEN SHINN-FORNG PENG; PO-NIEN TSAO; Chou, Hung-Chieh; Chen, Chien-Yi; CHIEN-YI CHEN; Hsieh, Wu-Shiun; Tsao, Po-Nien |
| 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
|
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 |
2018-09-10T07:43:55Z |
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 |
2018-09-10T06:50:06Z |
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 |
| 國立成功大學 |
2016-01-30 |
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
|
Liu, Yu-Ning;Liu, Tze-Tze;Fan, Ya-Ling;Niu, Dau-Ming;Chien, Yin-Hsiu;Chou, Yen-Yin;Lee, Ni-Chung;Hsiao, Kwang-Jen;Chiu, Yen-Hui |
| 國立臺灣大學 |
2016 |
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia
|
Hsiao, Chia-Chieh; Lee, Ni-Chung; Huang, Pei-Hsin; Tsai, Tzu-Hsun; 蔡紫薰; 李妮鍾; 黃佩欣 |
| 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 |
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 |
Showing items 1-50 of 128 (3 Page(s) Totally)
1 2 3 > >>
View [10|25|50] records per page
|
