公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
1995 | Glucose-6-phosphate Gene G327 is a Common Mutation in Chinese Patients with Glycogen Storage Disease Type I | 胡務亮; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.; Hwu, Wuh-Liang | Human Molecular Genetics | | | |
2001 | GTP CYCLOHYDROLASE I 基因轉殖小鼠啟動子表現及表現型分析 | 胡務亮 | | | | |
2002 | GTP Cyclohydrolase I 突變及Splicing之分子結構機轉(1/3) | 胡務亮 | | | | |
2003 | GTP Cyclohydrolase I 突變及Splicing之分子結構機轉(2/3) | 胡務亮 | | | | |
2004 | GTP Cyclohydrolase I 突變及Splicing之分子結構機轉(3/3) | 胡務亮 | Biochemical and Biophysical Research Communications (306),937–942 | | | |
1989 | Hereditary Progressive Dystonia with Marked Diurnal Fluctuation:Report of A Case | 王本榮; Shen, Y. Z.; 胡務亮; Wang, Pen-Jung; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
1989 | Hereditary Progrressive Dystonia with Marked Diurnal Fluctuation, Report of a Case | 胡務亮; Wang, P. J.; Shen, Y. Z.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
1993 | In Vitro DNA Methylation Inhibits FMR-1 Promoter | 胡務亮; Lee, Y. M.; Lee, S. C.; Wang, T. R.; Hwu, Wuh-Liang | Biochemical and Biophysical Research Communications | | | |
1993 | Measurement of Urinary Orotic Acid by Gas Chromatography-Mass Spectrometry | 胡務亮; Chou, S. P.; Wang, T. R.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2007 | Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations | Kemper, A. R.; Hwu, W.-L.; Lloyd-Puryear, M.; Kishnani, P. S.; 胡務亮 | PEDIATRICS | | | |
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 | | | |
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 | | | |
2005 | SIX NOVEL NPC1 MUTATIONS IN CHINESE PATIENTS WITH NIEMANN–PICK DISEASE TYPE C | 楊智超; 蘇怡寧; 余家利; 胡務亮; 李銘仁 | JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY | | | |
2007 | Tetrahydrobiopterin對於NO合 ’角局梇 (2/3) | 胡務亮 | | | | |
2007 | Tetrahydrobiopterin對於NO合成 ﹞局梇 (3/3) | 胡務亮 | | | | |
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 | | | |
1998 | 以抗體阻斷纖維芽細胞生長激素受體活化之研究 | 胡務亮 | | | | |
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 | | | | |
2011 | 新生兒篩檢原發性肉鹼缺乏症R254X基因突變之研究 | 陳念宜; Chen, Nien-I | | | | |