| Issue Date | Title | Author(s) | Source | scopus | WOS | Fulltext/Archive link |
| 2003 | Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early Testing | HWU, WUH-LIANG; CHIEN, YIN-HSIU; LIANG, CHAO-HSUAN; LEE, WANG-TSO; WANG, PEN-JUNG; TSAI, WEN-YU | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | | | |
| 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. | | | |
| 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 | Ann. Lab. Med. | | |  |
| 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; SHAU-PING LIN | Orphanet Journal of Rare Diseases | | | |
| 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 | | | |
| 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; NI-CHUNG LEE ; Tung, Yi-Ching | Journal of the Formosan Medical Association = Taiwan yi zhi | | | |
| 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 | | | |
| 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 | | | |
| 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 | | | |
| 2018 | Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS) | 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 | Orphanet Journal of Rare Diseases | | | |
| 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 | | | |
| 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; NI-CHUNG LEE ; Chien, Yin-Hsiu | Genetics in medicine : official journal of the American College of Medical Genetics | | | |
| 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 | | | |
| 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 | | | |
| 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 | | |  |
| 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 | | | |
| 2004 | Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment | PENG, SHINN-FORNG; TSENG, WEN-YIH; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LIU, HON-MAN; 廖漢文 | AMERICAN JOURNAL OF NEURORADIOLOGY | | | |
| 2004 | Distal Arthrogryposis in Two Sisters Born to Different Fathers | HWU, WUH-LIANG; CHIEN, YIN-HSIU; HSU, CHIA-CHI | AMERICAN JOURNAL OF MEDICAL GENETICS | | | |
| 2007 | Effects of Enzyme Replacement Therapy on Global and Regional Left Ventricular Function in Patients with Infantile Pompe Disease | HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIU, SHUENN-NAN; LIN, MING-TAI; WANG, JOU-KOU; WU, MEI-HWAN | INTERNATIONAL JOURNAL OF CARDIOLOGY | | | |
| 2009 | Elevation of Urinary Globotriaosylceramide (Gl-3) in Newborns with Low a- Galactosidase a Activity | HWU, WUH-LIANG; CHIEN, YIN-HSIU | MOLECULAR GENETICS AND METABOLISM | | | |
