公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
1999 | Millington Ds (1999) 3-Hydroxy-3-Methylglutaric Aciduria Presenting with Reye Like Syndrome: Report of One Case | HWU, WUH-LIANG | 中華民國小兒科醫學會雜誌,v.40 | | | |
2004 | Molecular Chaperones Affect Gtp Cyclohydrolase I Mutations in Dopa- Responsive Dystonia | HWU, WUH-LIANG; HWA, KUO-YUAN; LEE, YU- MAY | ANNALS OF NEUROLOGY | | | |
1999 | Molecular Diagnosis of Apert Syndrome in Chinese Patients | HWU, WUH-LIANG | ACTA PAEDIATRICA SINICA | | | |
2001 | Mri in a Case of Adult-Onset Citrullinemia | LIU, HON-MAN; HWU, WUH-LIANG; 廖漢文 | NEURORADIOLOGY | | | |
2002 | Mucopolysaccharidosis Type I in Taiwan | HWU, WUH-LIANG | EUROPEAN JOURNAL OF HUMAN GENETICS | | | |
1998 | Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan | HWU, WUH-LIANG | JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION | | | |
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 | | | |