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显示项目 201-225 / 326 (共14页)
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机构 日期 题名 作者
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

显示项目 201-225 / 326 (共14页)
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