公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2003 | Debate in Newborn Screening for Metabolic Disorders in Taiwan--a Voluntary Screening? Mandatory Screening? Or Both? | HWU, WUH-LIANG | ACTA PAEDIATRICA TAIWANICA | | | |
2004 | Detection of a Homozygous D645e Mutation of the Acid Alpha-Glucosidase Gene and Glycogen Deposition in Tissues in a Second-Trimester Fetus with Infantile Glycogen Storage Disease Type Ii | CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; TSAI, FUU-JEN; HWU, WUH-LIANG | PRENATAL DIAGNOSIS | | | |
2008 | Development of a Disease Severity Scoring System for Type 1 Gaucher Disease | HWU, WUH-LIANG | CLINICAL THERAPEUTICS | | | |
2008 | Development of a Disease Severity Scoring System for Type I Gaucher Disease | HWU, WUH-LIANG | MOLECULAR GENETICS AND METABOLISM | | | |
1994 | Diagnosis of I-Cell Disease | 胡務亮; 蔣書娟; 王文娟; 王作仁; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; WANG, WEN-CHUAN; WANG, TSO-REN | 中華民國小兒科醫學會雜誌,v.35 | | | |
1994 | The Diagnosis of I-Cell Disease | 胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
1992 | DNA Fingerprinting in the Chinese with an Oligonucleotide Probe (GTG) | 林凱信; 陳榮隆; Wang, Tso-Renmin; Su, Ih-Jen; Lin, Kuo-Sin; 胡務亮; Hwu, Wuh-Liang | Journal of the Formosan Medical Association | | | |
1999 | Dopa-Responsive Dystonia Induced by a Recessive Gtp Cyclohydrolase I | HWU, WUH-LIANG | HUMAN GENETICS | | | |
2000 | Dopa-Responsive Dystonia Is Induced by a Dominant-Negative Mechanism | HWU, WUH-LIANG | ANNALS OF NEUROLOGY | | | |
2007 | Effects of Enzyme Replacement Therapy on Global and Regional Left Ventricular Function in Patients with Infantile Pompe Disease | HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIU, SHUENN-NAN; LIN, MING-TAI; WANG, JOU-KOU; WU, MEI-HWAN | INTERNATIONAL JOURNAL OF CARDIOLOGY | | | |
2009 | Elevation of Urinary Globotriaosylceramide (Gl-3) in Newborns with Low a- Galactosidase a Activity | HWU, WUH-LIANG; CHIEN, YIN-HSIU | MOLECULAR GENETICS AND METABOLISM | | | |
2005 | Enzyme Replacement Therapy with Recombinant Human Acid Alpha Glucosidase (Rhgaa) in Infantile Onset Pompe Disease (Iopd) | HWU, WUH-LIANG | NEUROMUSCULAR DISORDERS | | | |
2001 | Epileptic Seizures and Electroencephalographic Evolution in Genetic Leukodystrophies | WANG, PEN-JUNG; HWU, WUH-LIANG; SHEN, YU- ZEN | JOURNAL OF CLINICAL NEUROPHYSIOLOGY | | | |
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 | | | |