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机构	日期	题名	作者
國立臺灣大學	2002	Clinical, 18f-Dopa Pet, and Genetic Analysis of an Ethnic Chinese Kindred with Early-Onset Parkinsonism and Parkin Gene Mutations	吳瑞美; 胡務亮; WU, RUEY-MEEI; HWU, WUH-LIANG
國立臺灣大學	2002	Enzyme Replacement Therapy with Imiglucerase in Taiwanese Patients with Type I Gaucher Disease	許嘉琪; 簡穎秀; 賴明陽; 胡務亮; HSU, CHIA-CHI; CHIEN, YIN-HSIU; LAI, MING-YANG; HWU, WUH-LIANG
國立臺灣大學	2002	Cockayne Syndrome in a Family	簡穎秀; 周弘傑; 胡務亮; CHIEN, YIN-HSIU; CHOU, HUNG-CHIEH; HWU, WUH-LIANG
國立臺灣大學	2002	Screening of Mitochondrial DNA Mutation in Subjects with Non-Syndromic Familial Hearing Impairment in Taiwan	簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG
國立臺灣大學	2002	An Infant with Heart Murmur and Dysmorphic Face	簡穎秀; 郭保麟; 胡務亮; CHIEN, YIN-HSIU; KUO, PAO-LIN; HWU, WUH-LIANG
國立臺灣大學	2002	Cranial Mr Spectroscopy of Tetrahydrobiopterin Deficiency	簡穎秀; 彭信逢; 胡務亮; CHIEN, YIN-HSIU; PENG, SHINN-FORNG; HWU, WUH-LIANG
國立臺灣大學	2002	Digeorge Sequence with Hypogammaglobulinemia: A Case Report	簡穎秀; 楊曜旭; 朱紹盈; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; YANG, YAO-HSU; CHU, SHAO-YIN; HWU, WUH-LIANG; CHIANG, BOR-LUEN
國立臺灣大學	2001	Epileptic Seizures and Electroencephalographic Evolution in Genetic Leukodystrophies	王本榮; 胡務亮; 沈友仁; WANG, PEN-JUNG; HWU, WUH-LIANG; SHEN, YU- ZEN
國立臺灣大學	2001	A Chinese Adult Onset Type Ii Citrullinaemia Patient with 851del4/1638ins 23 Mutations in the Slc25a13 Gene	胡務亮; HWU, WUH-LIANG
國立臺灣大學	2001	Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency	胡務亮; HWU, WUH-LIANG
國立臺灣大學	2001	Mri in a Case of Adult-Onset Citrullinemia	廖漢文; 胡務亮; LIU, HON-MAN; HWU, WUH-LIANG
國立臺灣大學	2001	Cloning of Dimethylglycine Dehydrogenase and a New Human Inborn Error of Metabolism, Dimethylglycine Dehydrogenase Deficiency	Binzak, Barbara A.; Wevers, Ron A.; Moolenaar, Sytske H.; Lee, Yu-May; Hwu, Wuh-Liang; Poggi-Bach, Jo; Engelke, Udo F.H.; Hoard, Heidi M.; Vockley, Joseph G.; Vockley, Jerry
國立臺灣大學	2001	Treatment and Outcome of Taiwanese Patients with 6- Pyruvoyltetrahydropterin Synthase Gene Mutations	簡穎秀; 王作仁; 胡務亮; CHIEN, YIN-HSIU; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學	2000	Dopa-Responsive Dystonia Is Induced by a Dominant-Negative Mechanism	胡務亮; HWU, WUH-LIANG
國立臺灣大學	2000	Congenital Contractural Arachnodactyly (Beals Syndrome)	胡務亮; HWU, WUH-LIANG
國立臺灣大學	2000	Carnitine Transporter Defect Presenting with Hyperammonemia, Report of One Case	胡務亮; HWU, WUH-LIANG
國立臺灣大學	2000	Identification and Characterization of-3c-G Acceptor Splice Site Mutation in Human Alpha-L-Iduronidase Associated with Mucopolysaccharidosis Type Ih/S	王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學	1999	Molecular Diagnosis of Apert Syndrome in Chinese Patients	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1999	Dopa-Responsive Dystonia Induced by a Recessive Gtp Cyclohydrolase I	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1999	Millington Ds (1999) 3-Hydroxy-3-Methylglutaric Aciduria Presenting with Reye Like Syndrome: Report of One Case	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1999	Hypercalcaemia in Glycogen Storage Disease Type Ia : A Case with R83h and 341delg Mutations	胡務亮; 張美惠; HWU, WUH-LIANG; CHANG, MEI-HWEI
國立臺灣大學	1999	Allele Distribution at the Fmr1 Locus in the General Chinese Population	王作仁; 胡務亮; WANG, TSO-REN; HWU, WUH-LIANG
國立臺灣大學	1999	Niemann-Pick Disease Type C (a Cellular Cholesterol Lipidosis) Treated by Bone Marrow Transplantation	徐玉山; 胡務亮; 盧孟佑; 陳榮隆; 林東燦; 彭信逢; 林凱信; HSU, Y-S; HWU, WUH-LIANG; LU, MENG-YAO; CHEN, RONG-LONG; LIN, DONG-TSAMN; PENG, SHINN-FORNG; LIN, KAI-HSIN
國立臺灣大學	1999	Homozygous 341delg/101x of Gulcose-6-Phosphatase(G6pt) Gene Causes Glycogen Storage Disease Type Ia (Von Gierke Disease) in a Chinese Patient	柯滄銘; 胡務亮; KO, TSANG-MING; HWU, WUH-LIANG
國立臺灣大學	1999	Molecular Genetic Study of Pompe Disease in Chinese Patients in Taiwan	柯滄銘; 胡務亮; 林玉婉; 曾麗慧; 華筱玲; 王作仁; 莊壽洺; KO, TSANG-MING; HWU, WUH-LIANG; LIN, YU-WAN; TSENG, LI-HUI; HWA, HSIAO-LIN; WANG, TSO-REN; CHUANG, SOU-MING
國立臺灣大學	1999	Allele distribution at the FMR1 locus in the general Chinese population	Chiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-Liang
國立臺灣大學	1999	Neonatal type of nonketotic hyperglycinemia	呂立; 王本榮; 胡務亮; 鄒國英; 王作仁; LU, FRANK L; WANG, PEN-JUNG; HWU, WUH-LIANG; YAU KOU-INN, TSOU; WANG, TSO-REN
國立臺灣大學	1998	Mucopolysaccharidosis Type Ii (Hunter's Syndrome) in Taiwan	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1998	Linkage Disequilibrium and Linkage Analysis of the Glucose-6-Phosphatase Gene	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1998	The Controversy Regaring Criteria for Early Myoclonic Encephalopathy	王本榮; 胡務亮; 楊千立; 鄒國英; 沈友仁; 李旺祚; WANG, PEN-JUNG; HWU, WUH-LIANG; YOUNG, CHAINLLIE; YAU, KOU-INN, TSOU; SHEN, YU-ZEN; LEE, WANG-TSO
國立臺灣大學	1998	Human Alpha-L-Iduronidase (Idua) Gene: Apparent Recombination in Intron 2 by Haplotype Analysis in a Taiwanese Population	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1998	Juvenile Huntington's Disease: Report of One Case	胡務亮; HWU, WUH-LIANG
國立臺灣大學	1996	Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia	王作仁; 王文炳; 胡務亮; 李明亮; WANG, TSO-REN; WANG, WEN-PING; HWU, WUH-LIANG; LEE, MING-LIANG
國立臺灣大學	1995	Cytogenetic Study of Mentally Retarded Children in Taipei	Sheng, W. W.; Lai, Y. M.; 胡務亮; Wang, T. R.; Wuu, K. I.; Sheng, W. W.; Lai, Y. M.; Hwu, Wuh-Liang; Wang, T. R.; Wuu, K. I.
國立臺灣大學	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; Wang, W. C.; Cheng, J. R.; Chuang, S. C.; Tsai, L. P.; Wang, T. R.
國立臺灣大學	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
國立臺灣大學	1994	Hereditary Progressive Dystonia with Marked Diurnal Fluctuation (Segawa Syndrome) in Taiwan	王本榮; 楊千立; 胡務亮; 沈友仁; WANG, PEN-JUNG; KO, YOU-MIN; YOUNG, CHAINLLIE; HWU, WUH-LIANG; SHEN, YU-ZEN
國立臺灣大學	1994	Case Report:Fucosidosis in a Chinese Girl	胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, W. C.; Wang, T. R.
國立臺灣大學	1994	The Diagnosis of I-Cell Disease	胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, W. C.; Wang, T. R.
國立臺灣大學	1994	Y-Specific Polymerase Chain Reaction for the Interpretation of Chromosome Marker	Wang, T. R.; 胡務亮; Hou, J. W.; Tsai, H. M.; Liu, C. H.; Wang, T. R.; Hwu, Wuh-Liang; Hou, J. W.; Tsai, H. M.; Liu, C. H.
國立臺灣大學	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.; Wang, T. R.; Hwu, Wuh-Liang; Hou, J. W.; Chou, S. P.; Liu, C. H.
國立臺灣大學	1993	In Vitro DNA Methylation Inhibits FMR-1 Promoter	胡務亮; Lee, Y. M.; Lee, S. C.; Wang, T. R.; Hwu, Wuh-Liang; Lee, Y. M.; Lee, S. C.; Wang, T. R.
國立臺灣大學	1993	Measurement of Urinary Orotic Acid by Gas Chromatography-Mass Spectrometry	胡務亮; Chou, S. P.; Wang, T. R.; Hwu, Wuh-Liang; Chou, S. P.; Wang, T. R.
國立臺灣大學	1992	Transfusion-Acquired Cytomegalovirus Infection in Children in a Hyperendemic Area	李秉穎; 張美惠; 胡務亮; 高全良; 李慶雲; LEE, PING-ING; CHANG, MEI-HWEI; HWU, WUH-LIANG; KAO, CHUAN-LIANG; LEE, CHIN-YUN
國立臺灣大學	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; 林凱信; 陳榮隆; Wang, Tso-Renmin; Su, Ih-Jen; Lin, Kuo-Sin; Hwu, Wuh-Liang
國立臺灣大學	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; Tsai, W. Y.; Lee, J. S.; Wang, P. J.; Wang, T. R.
國立臺灣大學	1991	Crisis in Gaucher Disease Simulating Osteomyelitis: Report of One Case	賴永章; 胡務亮; 王作仁; 謝貴雄; 李慶雲; 李瑤華; LAI, YUNG-CHANG; HWU, WUH-LIANG; WANG, TSO-REN; HSIEH, KUE-HSIUNG; LEE, CHIN-YUN; LI, YIU-WAH
國立臺灣大學	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
國立臺灣大學	1991	A Clinical Observation in Achondroplasia	胡務亮; Wang, T. R.; Hwu, Wuh-Liang; Wang, T. R.
國立臺灣大學	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.; Lin, D. T.; Hwu, Wuh-Liang; Lin, K. H.; Lin, K. S.

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