| 國立臺灣大學 |
2006 |
Hepatic Steatosis and Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (Niccd) in Taiwanese Infants
|
葉俊男; 鄭永銘; 陳慧玲; 倪衍玄; 胡務亮; 張美惠; YEN, JIUN-NAN; JENG, YUNG-MING; CHEN, HUEY-LING; NI, YEN-HSUAN; HWU, WUH-LIANG; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2006 |
Establishing a Standardized Therapeutic Testing Protocol for Spinal Muscular Atrophy
|
蔡力凱; 蔡明勳; 林則彬; 胡務亮; 李鴻; TSAI, LI-KAI; TSAI, MING-SHIUN; LIN, TZER-BIN; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2006 |
Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy
|
簡穎秀; 李妮鍾; 彭信逢; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; PENG, SHINN-FORNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma
|
蔡靜瑋; 楊智超; 陳慧玲; 胡務亮; 吳木榮; 劉高郎; 吳明賢; TSAI, CHING-WEI; YANG, CHIH-CHAO; CHEN, HUEY-LING; HWU, WUH-LIANG; WU, MU-ZON; LIU, KAO-LANG; WU, MING-SHIANG |
| 國立臺灣大學 |
2006 |
Time Course of Acylcarnitine Elevation in Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
|
李妮鍾; 簡穎秀; 陳慧玲; 邱寶琴; 倪衍玄; 張美惠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; CHEN, HUEY-LING; CHIOU, PAO-CHIN; NI, YEN-HSUAN; CHANG, MEI-HWEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Tandem Mass Neonatal Screening in Taiwan - Report from One Center
|
黃祥博; 朱凱麟; 簡穎秀; 魏明麗; 吳淑姿; 王曉芳; 胡務亮; HUANG, HSIANG-PO; CHU, KAI-LIN; CHIEN, YIN-HSIU; WEI, MING-LEE; WU, SHU-TZU; WANG, SHIAO-FANG; HWU, WUH-LIANG |
| 大葉大學 |
2005-12 |
Adenoviral Interneuronal Transportation after Retrograde Gene Transfer in Mice
|
Tsai, Li-Kai;Tsai, Ming-Shiun;Shyue, Song-Kun;Hwu, Wuh-Liang;Li, Hung |
| 國立臺灣大學 |
2005-11-16 |
Robust adaptive array beamforming under steering angle mismatch
|
Tsai Li-Kai; Tsai Ming-Shiun; Shyue Song-Kun; Hwu Wuh-Liang; Li Hung |
| 國立臺灣大學 |
2005 |
Spectrum of hypermethioninemia in neonatal screening
|
Chien, Yin-Hsiu; Chiang, Shu-Chuan; Huang, Aichu; Hwu, Wuh-Liang |
| 國立臺灣大學 |
2005 |
Enzyme Replacement Therapy with Recombinant Human Acid Alpha Glucosidase (Rhgaa) in Infantile Onset Pompe Disease (Iopd)
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Plasma Chitotriosidase Activity and Malaria
|
胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2005 |
Type I Gaucher Disease with Exophthalmos and Pulmonary Arteriovenous Malformation
|
胡務亮; 王主科; 簡穎秀; 陳俊安; HWU, WUH-LIANG; WANG, JOU-KOU; CHIEN, YIN-HSIU; CHEN, CHUN-AN |
| 國立臺灣大學 |
2005 |
Mapping of Psoriasis to 17q Terminus
|
胡務亮; 范盛娟; 蔡呈芳; 簡穎秀; 蔣書娟; 鄔哲源; 陳垣崇; HWU, WUH-LIANG; FANN, CATHY SHENG-JIUAN; TSAI, TSEN-FANG; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; WU, JER-YUARN; CHEN, YUAN-TSONG |
| 國立臺灣大學 |
2005 |
Kif21a Gene C.2860c>T Mutation in Congenital Fibrosis of Extraocular Muscles Type 1 and 3
|
林隆光; 簡穎秀; 鄔哲源; 王藹侯; 蔣書娟; 胡務亮; LIN, LUKE LONG-KUANG; CHIEN, YIN-HSIU; WU, JER-YUARN; WANG, AI-HOU; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Fundus Abnormalities in a Patient with Type I Gaucher's Disease with 12- Year Follow-Up
|
王宗仁; 陳慕師; 施永豐; 胡務亮; 賴明陽; WANG, TSUNG-JEN; CHEN, MUH-SHY; SHIH, YUNG-FENG; HWU, WUH-LIANG; LAI, MING-YANG |
| 國立臺灣大學 |
2005 |
Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort
|
吳瑞美; 林靜嫻; 胡務亮; WU, RUEY-MEEI; LIN, CHIN-HSIEN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Prevalence of the Fmr1 Mutation in Taiwan Assessed by Large-Scale Screening of Newborn Boys and Analysis of Dxs548-Fraxac1 Haplotype
|
曾慶誠; 蔡立平; 胡務亮; 林秀娟; 趙美琴; 鐘育志; 朱紹盈; 呂謹立; TZENG, CHING-CHERNG; TSAI, LI-PING; HWU, WUH-LIANG; LIN, SHIO-JEAN; CHAO, MEI-CHYN; JONG, YUH-JYH; CHU, SHAO-YIN; LU, CHIN-LI |
| 國立臺灣大學 |
2005 |
Reye's Syndrome Developing in an Infant on Treatment of Kawasaki Syndrome
|
魏之明; 陳慧玲; 李秉穎; 陳中明; 馬君毅; 胡務亮; WEI, CHIH-MING; CHEN, HUEY-LING; LEE, PING-ING; CHEN, CHUNG-MING; MA, JUINE-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2005 |
Adenoviral Interneuronal Transportation after Retrograde Gene Transfer in Mice
|
蔡力凱; 蔡明勳; 徐松錕; 胡務亮; 李鴻; TSAI, LI-KAI; TSAI, MING-SHIUN; SHYUE, SONG-KUN; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2005 |
Six Novel Npc1 Mutations in Chinese Patients with Niemann–Pick Disease Type C
|
楊智超; 蘇怡寧; 余家利; 胡務亮; 李銘仁; YANG, CHIH-CHAO; SU, YI-NING; YU, CHIA-LI; HWU, WUH-LIANG; LEE, MING-JEN |
| 國立臺灣大學 |
2004 |
Natural History of Infantile Onset Pompe Disease: Results from a Retrospective Chart Review Study
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Rnf4 Is a Coactivator for Nuclear Factor Y on Gtp Cyclohydrolase I Proximal Promoter
|
胡務亮; 華國媛李玉梅; HWU, WUH-LIANG; HWA, KUO-YUAN; ROBERTO MANTOVANI; LEE, YU-MAY |
| 國立臺灣大學 |
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
|
陳持平; 林炫沛; 曾岐元; 蔡輔仁; 胡務亮; CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; TSAI, FUU-JEN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Distal Arthrogryposis in Two Sisters Born to Different Fathers
|
胡務亮; 簡穎秀; 許嘉琪; HWU, WUH-LIANG; CHIEN, YIN-HSIU; HSU, CHIA-CHI |
| 國立臺灣大學 |
2004 |
DNA Haplotype Analysis of Cag Repeat in Taiwanese Huntington's Disease Patients
|
胡務亮; 吳瑞美; 陳達夫; 邱銘章; 呂建榮; 李桂楨; HWU, WUH-LIANG; WU, RUEY-MEEI; CHEN, TA- FU; CHIU, MING-JANG; LU, CHIEN-JUNG; LEE, CHEN GUEY-JEN |
| 國立臺灣大學 |
2004 |
Molecular Chaperones Affect Gtp Cyclohydrolase I Mutations in Dopa- Responsive Dystonia
|
胡務亮; 華國媛; 李玉梅; HWU, WUH-LIANG; HWA, KUO-YUAN; LEE, YU- MAY |
| 國立臺灣大學 |
2004 |
Diffusion Tensor Images in Children with Early-Treated, Chronic, Malignant Phenylketonuric: Correlation with Intelligence Assessment
|
彭信逢; 曾文毅; 簡穎秀; 胡務亮; 廖漢文; PENG, SHINN-FORNG; TSENG, WEN-YIH; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LIU, HON-MAN |
| 國立臺灣大學 |
2004 |
RNF4 Is a Coactivator for Nuclear Factor Y on GTP Cyclohydrolase I Proximal Promoter
|
Wu, Sheng-Ming; Kuo, Wen-Chih; Hwu, Wuh-Liang; Hwa, Kuo-Yuan; Mantovani, Roberto; Lee, Yu-May |
| 國立臺灣大學 |
2004 |
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia
|
Hwu, Wuh-Liang; Lu, Mei-Yi; Hwa, Kuo-Yuan; Fan, Shu-Wen; Lee, Yu-May |
| 國立臺灣大學 |
2004 |
Carbohydrate Deficient Glycoprotein Syndrome Type Ia
|
朱凱麟; 簡穎秀; 蔡承恩; 胡務亮; CHU, KAI-LIN; CHIEN, YIN-HSIU; TSAI, CHEN-EN; HUDSON H. FREEZE; ERIK EKLUND; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
A Step-Wise Diagnosis of Fragile X Syndrome in Taiwan
|
黃淵德; 蔣書娟; 曾慶誠; 劉敬萱; 簡穎秀; 胡務亮; HUANG, YUAN-TE; CHIANG, SHU-CHUAN; TZENG, CHING-CHERNG; LIU, CHING-HSUAN; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Poor Outcome for Neonatal-Type Nonketotic Hyperglycinemia Treated with High-Dose Sodium Benzoate and Dextromethorphan
|
簡穎秀; 許嘉琪; 黃愛珠; 周西平; 呂立; 李旺祚; 胡務亮; CHIEN, YIN-HSIU; HSU, CHIA-CHI; HUANG, AI-CHU; CHOU, SHI-PING; LU, FRANK L; LEE, WANG-TSO; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Mutation Spectrum in Taiwanese Patients with Phenylalanine Hydroxylase Deficiency and a Founder Effect for the R241c Mutation
|
簡穎秀; 蔣書娟; 黃愛珠; 周西平; 曾思珊; 黃淵德; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; CHOU, SHI-PING; TSENG, SZU-SAN; HUANG, YUAN-TE; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Phenylalanine Hydroxylase Deficiency: Interlligence of Patients after Early Dietary Treatment
|
簡穎秀; 蔣書娟; 黃愛珠; 林京美; 丘彥南; 周西平; 王作仁; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; LIN, JING-MEEI; CHIU, YEN-NAN; CHOU, SHI-PING; WANG, TSO-REN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Trisomy 18 in Monozygotic Twins with Discordant Phenotypes
|
李建德; 周弘傑; 曹伯年; 謝武勳; 胡務亮; LEE, JIAHN-TE; CHOU, HUNG-CHIEH; TSAO, PO-NIEN; HSIEH, WU-SHIUN; HWU, WUH-LIANG |
| 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 |
