公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
2003 | Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case | WANG, CHENG-YI; HWU, WUH-LIANG | ACTA PAEDIATRICA TAIWANICA | | | |
2005 | Mapping of Psoriasis to 17q Terminus | HWU, WUH-LIANG; FANN, CATHY SHENG-JIUAN; TSAI, TSEN-FANG; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; WU, JER-YUARN; CHEN, YUAN-TSONG | JOURNAL OF MEDICAL GENETICS | | | |
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 | | | |
2008 | Miglustat in Patients with Niemann-Pick Type C Disease (Npc): A Multicentre Retrospective Survey | HWU, WUH-LIANG | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
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 | | | |