公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
1991 | Quantification of Arylsulfatase B Activity and the Diagnosis of Maroteaux-Lamy Syndrome | 胡務亮; Wang, T. R.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2007 | Recombinant Human Acid Alpha-Glucosidase - Major Clinical Benefits in Infantile-Onset Pompe Disease | HWU, WUH-LIANG; CHIEN, YIN-HSIU; CHEN, YUAN-TSONG | NEUROLOGY | | | |
2003 | Regulation of Gtp Cyclohydrolase I by Alternative Splicing in Mononuclear Cells | Hwu, Wuh-Liang; Yeh, Hui-Ying; Fang, Shu-Wen; Chiang, Hao-Sen; Chiou, Yu-Wei; Lee, Yu-May; HWU, WUH-LIANG; CHIANG, HONG-SEN | Biochemical and Biophysical Research Communications | | | |
2006 | A Retrospective, Multinational, Multicenter Study on the Natural History of Infantile-Onset Pompe Disease | HWU, WUH-LIANG | JOURNAL OF PEDIATRICS | | | |
2005 | Reye's Syndrome Developing in an Infant on Treatment of Kawasaki Syndrome | WEI, CHIH-MING; CHEN, HUEY-LING; LEE, PING-ING; CHEN, CHUNG-MING; MA, JUINE-YIH; HWU, WUH-LIANG | JOURNAL OF PAEDIATRICS AND CHILD HEALTH | | | |
2004 | Rnf4 Is a Coactivator for Nuclear Factor Y on Gtp Cyclohydrolase I Proximal Promoter | HWU, WUH-LIANG; HWA, KUO-YUAN; ROBERTO MANTOVANI; LEE, YU-MAY | MOLECULAR PHARMACOLOGY | | | |
2016 | Slowly progressive myopathy in neonatal-treated patients with infantile-onset Pompe disease: A longitudinal prospective muscle MRI cohort study | Chien, Yin-Hsiu; Hwu, Wuh-Liang; Peng, Steven Shinn-Forng | Molecular Genetics and Metabolism | 0 | 0 | |
2003 | Two Novel Mutations in the Alpha-Galactosidase a Gene in Chinese Patients with Fabry Disease | HWU, WUH-LIANG | CLINICAL GENETICS | | | |
2005 | Type I Gaucher Disease with Exophthalmos and Pulmonary Arteriovenous Malformation | HWU, WUH-LIANG; WANG, JOU-KOU; CHIEN, YIN-HSIU; CHEN, CHUN-AN | BMC MEDICAL GENETICS | | | |
2008 | An Update on Newborn Screening for Pompe Disease | HWU, WUH-LIANG; CHIEN, YIN-HSIU | MOLECULAR GENETICS AND METABOLISM | | | |
1994 | Y-Specific Polymerase Chain Reaction for the Interpretation of Chromosome Marker | Wang, T. R.; 胡務亮; Hou, J. W.; Tsai, H. M.; Liu, C. H.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2009 | 原發性肉鹼缺乏症之新生兒篩檢個案的SLC22A5 (OCTN2)基因R254X突變分析 | 吳瓊娟; Wu, Chiung-Chuan | | | | |
2009 | 唐氏症患者智能發展趨勢及語文與非語文能力分歧之探討 | 張麗滿; Chang, Lih-Maan | | | | |