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 | | | |
2008 | Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease | HWU, WUH-LIANG | MOLECULAR GENETICS AND METABOLISM | | | |
2008 | Alglucosidase Alfa in Infants and Children with Pompe Disease | HWU, WUH-LIANG | NEUROMUSCULAR DISORDERS | | | |
2008 | Alglucosidase Alpha in Infants and Children with Pompe's Disease | HWU, WUH-LIANG | EUROPEAN JOURNAL OF NEUROLOGY | | | |
2012 | Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program | Chiang, Shu-Chuan; Hwu, Wuh-Liang | Mol. Genet. Metab. | | |  |
1989 | Alkaptonuria in a Chinese Baby Case Report | Wang, T. R.; 胡務亮; Hwu, Wuh-Liang | Journal of Inherited Metabolic Disease | | | |
1999 | Allele Distribution at the Fmr1 Locus in the General Chinese Population | Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang | CLINICAL GENETICS | | | |
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. | | | |
2020 | Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing | Hwa, Hsiao-Lin; Wu, Ming-Yih; Lee, James Chun-I; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; Hwu, Wuh-Liang; Su, Chih-Wen | Legal medicine (Tokyo, Japan) | 5 | 6 | |
2020 | Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing | 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 | Legal medicine (Tokyo, Japan) | 5 | 6 | |
2016 | AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMES | Kanungo, Shibani; Hwu, Wuh-Liang | Mol. Genet. Metab. | | | |
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; SHAU-PING LIN | Molecular Genetics and Metabolism | 22 | 25 | |
2000 | Carnitine Transporter Defect Presenting with Hyperammonemia, Report of One Case | HWU, WUH-LIANG | ACTA PAEDIATRICA SINICA | | | |
1994 | Case Report:Fucosidosis in a Chinese Girl | 胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, T. R. | Journal of Inherited Metabolic Disease | | | |
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 | 12 | 19 | |
2001 | A Chinese Adult Onset Type Ii Citrullinaemia Patient with 851del4/1638ins 23 Mutations in the Slc25a13 Gene | HWU, WUH-LIANG | JOURNAL OF MEDICAL GENETICS | | | |
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; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE ; 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; 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 | |