公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2005 | Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort | Wu, Ruey-Meei; Bounds, Rebecca; Lincoln, Sarah; Hulihan, Mary; Lin, Chin-Hsien; Hwu, Wuh-Liang; Chen, Judy; Gwinn-Hardy, Katrina; Farrer, Matt | ARCHIVES OF NEUROLOGY | | | |
2005 | Plasma Chitotriosidase Activity and Malaria | HWU, WUH-LIANG; CHIEN, YIN-HSIU | CLINICA CHIMICA ACTA | | | |
2008 | Pompe Disease in Thai Infants - Report of 4 Cases | HWU, WUH-LIANG | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
1992 | Prader-Willi Syndrome with Chromosome 15 Intersitital Deletion:Report of a Case | 胡務亮; Tsai, W. Y.; Lee, J. S.; Wang, P. J.; Wang, T. R.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2007 | Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome) | CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; HWU, WUH-LIANG; CHERN, SCHU-RERN; WANG, WAY-SEEN | GENETIC COUNSELING | | | |
2005 | Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype | TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | | | |
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 | | | | |