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Showing items 201-250 of 326  (7 Page(s) Totally)
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Institution Date Title Author
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

Showing items 201-250 of 326  (7 Page(s) Totally)
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