| 國立臺灣大學 |
2004 |
Neuropsychological Profiles of Three Cases of X-linked Adrenoleukodystrophy
|
林希陶; 盧小蓉; 蘇淑貞; 胡務亮; 黃愛珠; 宋維村; LIN, SHI-TAO; LU, HSIAO-JUNG; SU, SHU-CHEN; HWU, WUH-LIANG; HUANG, AI-CHU; SOONG, WEI-TSUEN |
| 國立成功大學 |
2003-12 |
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese
|
Huang, Yuan-Te; Chien, Yin-Hsiu; Yeh, Hui-Ying; Lin, Shio-Jean; Lu, Frank-Li; Chou, Shi-Ping; Lin, Jing-Meei; Chiang, Shu-Chuan; Hwu, Wuh-Liang |
| 國立臺灣大學 |
2003 |
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
|
Kobayashi, Keiko; Lu, Yao Bang; Li, Meng Xian; Nishi, Ikumi; Hsiao, Kwang-Jen; Choeh, Kyuchul; Yang, Yanling; Hwu, Wuh-Liang; Reichardt, Juergen K.V.; Palmieri, Ferdinando; Okano, Yoshiyuki; Saheki, Takeyori |
| 國立臺灣大學 |
2003 |
Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case
|
王正一; 胡務亮; WANG, CHENG-YI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Natural History of Infantile Onset Pompe Disease(Iopd): A Study Report
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Infantile Onset Pompe Disease (Iopd) Natural History: A Study Report
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Two Novel Mutations in the Alpha-Galactosidase a Gene in Chinese Patients with Fabry Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
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 |
| 國立臺灣大學 |
2003 |
Gene Symbol: Otc. Disease: Ornithine Carbamoyltransferase Deficiency
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Common Variable Immunodeficiency with Hypoglycemia, Kikuchi Lymphadenitis , and Hemiparesis in Two Siblings
|
胡務亮; 江伯倫; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2003 |
A Founder Mutation (R254x) of Slc22a5 (Octn2) in Chinese Primary Carnitine Deficiency Patients
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Debate in Newborn Screening for Metabolic Disorders in Taiwan--a Voluntary Screening? Mandatory Screening? Or Both?
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early Testing
|
胡務亮; 簡穎秀; 梁昭鉉; 李旺祚; 王本榮; 蔡文友; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LIANG, CHAO-HSUAN; LEE, WANG-TSO; WANG, PEN-JUNG; TSAI, WEN-YU |
| 國立臺灣大學 |
2003 |
Living-Related Liver Transplantation for Methylmalonic Acidemia: Report of One Case.
|
許瑞育; 簡穎秀; 朱紹盈; 呂立; 陳慧玲; 何明志; 李伯皇; 胡務亮; HSUI, JUI-YU; CHIEN, YIN-HSIU; CHU, SHAO-YIN; LU, FRANK L; CHEN, HUEY-LING; HO, MING-CHIH; LEE, PO-HUANG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese
|
黃淵德; 簡穎秀; 葉慧英; 林秀娟; 呂立; 周西平; 林京美; 蔣書娟; 胡務亮; HUANG, YUAN-TE; CHIEN, YIN-HSIU; YEH, HUI-YING; LIN, SHIO-JEAN; LU, FRANK L; CHOU, SHI-PING; LIN, JING-MEEI; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Pamidronate Treatment of Severe Osteogenesis Imperfecta in a Newborn Infant
|
簡穎秀; 朱紹盈; 許嘉琪; 胡務亮; CHIEN, YIN-HSIU; CHU, SHAO-YIN; HSU, CHIA-CHI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Common Variable Immunodeficiency with Hypoglycemia, Kikuchi Lymphadenitis , and Hemiparesis in Two Siblings
|
簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2002 |
Mucopolysaccharidosis Type I in Taiwan
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Neonatal Screening for Congenital Adrenal Hyperplasia in Taiwan: A Pilot Study
|
朱紹盈; 蔡文友; 陳麗新; 魏明麗; 簡穎秀; 胡務亮; CHU, SHAO-YIN; TSAI, WEN-YU; CHEN, LI- HSIN; WEI, MING-LEE; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Spontaneous Chylothorax in a Case of Cardio-Facio-Cutaneous Syndrome
|
詹珮君; 邱顯清; 胡務亮; CHAN, PEI-CHUN; CHIU, HSIEN-CHING; HWU, WUH-LIANG |
| 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 |
