| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
| 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 | Mol. Ther. | | | |
| 2008 | Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency | 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 | Journal of Pediatric Gastroenterology and Nutrition | 15 | 9 | |
| 2021 | 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 | Journal of the Formosan Medical Association = Taiwan yi zhi | 2 | 2 | |
| 2021 | 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 | Journal of the Formosan Medical Association = Taiwan yi zhi | | 1 | |
| 2021 | 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 | Journal of the Formosan Medical Association = Taiwan yi zhi | | 2 | |
| 2021 | 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 | Journal of the Formosan Medical Association = Taiwan yi zhi | | 2 | |
| 2020 | 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 | American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics | | 0 | |
| 2021 | 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 | Genetics in medicine : official journal of the American College of Medical Genetics | 1 | 1 | |
| 2022 | 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 | Scientific reports | 0 | 0 | |
| 2021 | 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 | Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi | | 0 | |
| 2012 | Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system | Chen, Szu-Ta; NI-CHUNG LEE; MEI-HWEI CHANG; Su, Yi-Ning; HUEY-LING CHEN; Ni, Yen-Hsuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Yen-Hsuan Ni; WUH-LIANG HWU; Chien, Yin-Hsiu; Chang, Cheng-Chi; Chen, Huey-Ling; Chang, Mei-Hwei | Journal of Pediatrics | 11 | 11 |  |
| 2020 | Dietary intake and nutritional status of patients with phenylketonuria in Taiwan | Weng, Hui-Ling; Yang, Feng-Jung; PEY-RONG CHEN ; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu | Scientific reports | | 1 | |
| 2021 | 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 | Journal of the Formosan Medical Association = Taiwan yi zhi | | 0 | |
| 2012 | Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency | 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 | Neurosurgery | 4 | 4 |  |
| 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 | Mol. Ther. | | | |
| 2021 | 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 | Archives of disease in childhood | | 0 | |
| 2020 | Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma | Weng, Hui-Ling; Yang, Feng-Jung; Chien, Yin-Hsiu; PEY-RONG CHEN ; Lin, Zi-Xuan; Lee, Ni-Chung; Hwu, Wuh-Liang | Journal of nephrology | | 0 | |
| 2021 | 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 | Molecular therapy : the journal of the American Society of Gene Therapy | | 1 | |
| 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; WEI-CHUNG HSU | Molecular Genetics and Metabolism | 0 | 0 | |
| 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; WEI-CHUNG HSU | Journal of Pediatrics | 58 | 71 | |
