公開日期 | 標題 | 作者 | 來源出版物 | scopus | WOS | 全文 |
1994 | Case Report:Fucosidosis in a Chinese Girl | 胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang | Journal of Inherited Metabolic Disease | | | |
2001 | A Chinese Adult Onset Type Ii Citrullinaemia Patient with 851del4/1638ins 23 Mutations in the Slc25a13 Gene | HWU, WUH-LIANG | JOURNAL OF MEDICAL GENETICS | | | |
1991 | A Clinical Observation in Achondroplasia | 胡務亮; Wang, T. R.; Hwu, Wuh-Liang | Journal of Acta Paediatrica Sinica | | | |
2008 | Clinical Response to Recombinant Acid Alpha-Glucosidase Is Predicted by Cardiac Outcome Measures in Children with Pompe Disease | HWU, WUH-LIANG | CIRCULATION | | | |
1991 | A Clinical Study in Intravenous Immunoglobulin Therapy for Childhood Idiopathic Chromobocytopenic Purpura | Lin, D. T.; 胡務亮; Lin, K. H.; Lin, K. S.; Hwu, Wuh-Liang | Journal of the Formosan Medical Association | | | |
2008 | A Clinical Trial of Idursulease in Hunter Syndrome Patients 5 Years Old and Younger | HWU, WUH-LIANG | JOURNAL OF INHERITED METABOLIC DISEASE | | | |
2001 | Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency | HWU, WUH-LIANG | AMERICAN JOURNAL OF HUMAN GENETICS | | | |
1991 | COLOCALIZATION IN PERICENTRAL HEPATOCYTES IN ADULT MICE AND SIMILARITY IN DEVELOPMENTAL EXPRESSION PATTERN OF ORNITHINE AMINOTRANSFERASE AND GLUTAMINE SYNTHETASE IN mRNA | 顧泉; 胡務亮; KUO, FRANK C; HWU, WUH-LIANG; VALLE D | PROCEEDINGS OF THE | | | |
1991 | Colocalization in Pericentral Hepatocytes in Adult Mice and Similarity in Developmental Expression Pattern of Ornithine Aminotransferase and Glutamine Synthetase mRNA | Kuo, F. C.; 胡務亮; Valle, D.; Darnell, J. E.; Hwu, Wuh-Liang | Proceedings of the National Academy of Sciences of the United States of America | | | |
1998 | The Controversy Regaring Criteria for Early Myoclonic Encephalopathy | WANG, PEN-JUNG; HWU, WUH-LIANG; YOUNG, CHAINLLIE; YAU, KOU-INN, TSOU; SHEN, YU-ZEN; LEE, WANG-TSO | BRAIN AND DEVELOPMENT | | | |
2023 | Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes | Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; Zeev, Bruria Ben; Bisello, Giovanni; Ceylan, Ahmet Cevdet; YIN-HSIU CHIEN ; Choy, Yew Sing; Elsea, Sarah H; Flint, Lisa; García-Cazorla, Àngels; Gijavanekar, Charul; Gümüş, Emel Yılmaz; Hamad, Muddathir H; Hişmi, Burcu; Honzik, Tomas; Kuseyri Hübschmann, Oya; Hwu, Wuh-Liang; Ibáñez-Micó, Salvador; Jeltsch, Kathrin; Juliá-Palacios, Natalia; Kasapkara, Çiğdem Seher; Kurian, Manju A; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L; Pérez, Belén; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thöny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad | Molecular genetics and metabolism | 3 | 1 | |
1989 | Current Status of Detecting Fragible-X Syndrome Using Molecular Biology Techniques at the National Taiwan University Hospital | Wang, Tso-Ren; Hwu, Wuh-Liang; 胡務亮 | 1992 San Diego Conference on Nucleic Acids:Genetic Recognition | | | |
1995 | Cytogenetic Study of Mentally Retarded Children in Taipei | Sheng, W. W.; Lai, Y. M.; 胡務亮; Wang, T. R.; Wuu, K. I.; Hwu, Wuh-Liang | Biomedical Science | | | |
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 | | | |