公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
1996 | Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia | WANG, TSO-REN; WANG, WEN-PING; HWU, WUH-LIANG; LEE, MING-LIANG | HUMAN MUTATION | | | |
2003 | A Founder Mutation (R254x) of Slc22a5 (Octn2) in Chinese Primary Carnitine Deficiency Patients | HWU, WUH-LIANG | HUMAN MUTATION | | | |
1993 | Fragile X Mental Retardation:A Combination of Cytogenetic and Molecular Approaches with More Stress on DNA Analysis | Wang, T. R.; 胡務亮; Hou, J. W.; Chou, S. P.; Liu, C. H.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2012 | Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency | Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei | Neurosurgery | 4 | 4 | |
2013 | Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency: Report of Treatment for 8 Patients | Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry; Tai, Chun-Hwei; Wu, Ruey-Meei | Mol. Ther. | | | |
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 | | | |
1994 | Hereditary Progressive Dystonia with Marked Diurnal Fluctuation (Segawa Syndrome) in Taiwan | WANG, PEN-JUNG; KO, YOU-MIN; YOUNG, CHAINLLIE; HWU, WUH-LIANG; SHEN, YU-ZEN | BRAIN AND DEVELOPMENT | | | |
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 | | | |
1999 | Homozygous 341delg/101x of Gulcose-6-Phosphatase(G6pt) Gene Causes Glycogen Storage Disease Type Ia (Von Gierke Disease) in a Chinese Patient | KO, TSANG-MING; HWU, WUH-LIANG | HUMAN MUTATION | | | |
1998 | Human Alpha-L-Iduronidase (Idua) Gene: Apparent Recombination in Intron 2 by Haplotype Analysis in a Taiwanese Population | HWU, WUH-LIANG | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | | | |
1999 | Hypercalcaemia in Glycogen Storage Disease Type Ia : A Case with R83h and 341delg Mutations | HWU, WUH-LIANG; CHANG, MEI-HWEI | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
2000 | Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S | WANG, TSO-REN; HWU, WUH-LIANG | CLINICAL GENETICS | | | |
2008 | Identification of Eight Novel Mutations of the Acid Alpha-Glucosidase Gene Causing the Infantile or Juvenile Form of Glycogen Storage Disease Type Ii | WAN, LEI; LEE, CHENG-CHUN; HSU, CHIN-MOO; HWU, WUH-LIANG; YANG, CHIH-CHAO; TSAI, CHANG-HAI; TSAI, FUU-JEN | JOURNAL OF NEUROLOGY | | | |
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 | | | |
2003 | Infantile Onset Pompe Disease (Iopd) Natural History: A Study Report | HWU, WUH-LIANG | PEDIATRIC RESEARCH | | | |
1998 | Juvenile Huntington's Disease: Report of One Case | HWU, WUH-LIANG | 中華民國小兒科醫學會雜誌,v.39 | | | |
2010 | Laboratory Diagnosis, Treatment, and Follow-up of 78 Patients with Aromatic L-Amino Acid Decarboxylase Deficiency | HWU, WUH-LIANG | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
1998 | Linkage Disequilibrium and Linkage Analysis of the Glucose-6-Phosphatase Gene | HWU, WUH-LIANG | HUMAN GENETICS | | | |
2013 | Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn | Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi; WEI-CHUNG HSU | Molecular Genetics and Metabolism | 0 | 0 | |