公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
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 | | | | |