| 國立臺灣大學 |
2007 |
Recombinant Human Acid Alpha-Glucosidase - Major Clinical Benefits in Infantile-Onset Pompe Disease
|
胡務亮; 簡穎秀; 陳垣崇; HWU, WUH-LIANG; CHIEN, YIN-HSIU; CHEN, YUAN-TSONG |
| 國立臺灣大學 |
2007 |
Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)
|
陳持平; 林炫沛; 曾岐元; 胡務亮; 陳樹人; 王偉信; CHEN, CHIH-PING; LIN, SHUAN-PEI; TZEN, CHIN-YUAN; HWU, WUH-LIANG; CHERN, SCHU-RERN; WANG, WAY-SEEN |
| 國立臺灣大學 |
2007 |
Lsd Enzyme Assays in Dried Blood Spots - from Research to Newborn Screening
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Deficiency of the Carnitine Transporter (Octn2) with Partial N- Acetylglutamate Synthase (Nags) Deficiency
|
胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG |
| 國立臺灣大學 |
2007 |
Valproic Acid Treatment in Six Patients with Spinal Muscular Atrophy
|
蔡力凱; 楊智超; 胡務亮; 李鴻; TSAI, LI-KAI; YANG, CHIH-CHAO; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2007 |
Treatment of Niemann-Pick Disease Type C in Two Children with Miglustat: Initial Responses and Maintenance of Effects over 1 Year
|
簡穎秀; 李妮鍾; 蔡力凱; 黃愛珠; 彭信逢; 陳世杰; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; TSAI, LI-KAI; HUANG, AI-CHU; PENG, SHINN-FORNG; CHEN, SHYH-JYE; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
The Genetics of Atopic Dermatitis
|
簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2007 |
Outcome of Pulmonary and Aortic Stenosis in Williams-Beuren Syndrome in an Asian Cohort
|
王景甲; 胡務亮; 吳恩婷; 呂立; 王主科; 吳美環; WANG, CHING-CHIA; HWU, WUH-LIANG; WU, EN-TING; LU, FRANK L; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2007 |
Identification and Management of Cardiac Perforation from a Double Lumen Catheter in an Infant
|
王景甲; 陳詠瑋; 吳恩婷; 簡穎秀; 胡務亮; 柯文哲; 黃書健; WANG, CHING-CHIA; CHEN, YUNG-WEI; WU, EN-TING; CHIEN, YIN-HSIU; HWU, WUH-LIANG; KO, WEN-JE; HUANG, SHU-CHIEN |
| 國立臺灣大學 |
2007 |
Slipped Capital Femoral Epiphysis as a Complication of Growth Hormone Therapy
|
王碩郁; 童怡靖; 蔡文友; 簡穎秀; 李俊賢; 胡務亮; WANG, SHUO-YU; TUNG, YI-CHING; TSAI, WEN-YU; CHIEN, YIN-HSIU; LEE, JING-SHENG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2007 |
Lack of Mutations in Spinocerebellar Ataxia Type 2 and 3 Genes in a Taiwanese (Ethnic Chinese) Cohort of Familial and Early-Onset Parkinsonism
|
林靜嫻; 胡務亮; 蔣書娟; 戴香暉; 吳瑞美; LIN, CHIN-HSIEN; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; TAI, CHUN-HWEI; WU, RUEY-MEEI |
| 國立臺灣大學 |
2007 |
A Review of Treatment of Pompe Disease in Infants
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 大葉大學 |
2006-11 |
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
|
Tsai, Li-Kai;Tsai, Ming-Shiun;Lin, Tzer-Bin;Hwu, Wuh-Liang;Li, Hung |
| 國立臺灣大學 |
2006 |
A Retrospective, Multinational, Multicenter Study on the Natural History of Infantile-Onset Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2006 |
Mutation Analysis of Gaucher Disease Patients in Taiwan: High Prevalence of the Recncii and L444p Mutations
|
許欽木; 蔡長梅; 李正淳; 胡務亮; 蔡輔仁; HSU, CHIN-MOO; TSAI, C-H; LEE, CHENG-CHUN; HWU, WUH-LIANG; TSAI, FUU-JEN |
| 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 |
