公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2009 | A Multicentre Retrospective Cohort Study of Miglustat in Patients with Niemann-Pick Disease Type C | HWU, WUH-LIANG | MOLECULAR GENETICS AND METABOLISM | | | |
2009 | A Multicentre Retrospective Survey of Miglustat in Patients with Niemann- Pick Type C Disease | HWU, WUH-LIANG | MOLECULAR GENETICS AND METABOLISM | | | |
2006 | Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations | HSU, CHIN-MOO; TSAI, C-H; LEE, CHENG-CHUN; HWU, WUH-LIANG; TSAI, FUU-JEN | BLOOD CELLS MOLECULES AND DISEASES | | | |
2003 | Natural History of Infantile Onset Pompe Disease(Iopd): A Study Report | HWU, WUH-LIANG | AMERICAN JOURNAL OF HUMAN GENETICS | | | |
2004 | Natural History of Infantile Onset Pompe Disease: Results from a Retrospective Chart Review Study | HWU, WUH-LIANG | MOLECULAR GENETICS AND METABOLISM | | | |
2008 | Neonatal Screening for Pompe Disease: A 2-Tier Screening Test | HWU, WUH-LIANG; CHIANG, SHU-CHUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU | CLINICAL THERAPEUTICS | | | |
2007 | Neonatal Screening for Pompe Disease: A Two-Tier Screening Test | HWU, WUH-LIANG | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
2009 | Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Gla Mutation C.936+919g > a (Ivs4+919g > a) | HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; YEH, HUI-YING; CHAO, MEI-CHYN; LIN, SHIO-JEAN; HSU, LI-WEN | HUMAN MUTATION | | | |
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 | | | |