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教育部委託研究計畫      計畫執行:國立臺灣大學圖書館
 
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機構 日期 題名 作者
國立臺灣大學 2008 Long-Term Follow-up of a Girl with Maroteaux-Lamy Syndrome after Bone Marrow Transplantation 王景甲; 胡務亮; 林凱信; WANG, CHING-CHIA; HWU, WUH-LIANG; LIN, KAI-HSIN
國立臺灣大學 2008 Mutation of Mitochondrial DNA G13513a Presenting with Leigh Syndrome, Wolff-Parkinson-White Syndrome and Cardiomyopathy 王緖斌; 翁妏謹; 李妮鍾; 胡務亮; 范碧娟; 李旺祚; WANG, SHI-BING; WENG, WEN-CHIN; LEE, NI-CHUNG; HWU, WUH-LIANG; FAN, PI-CHUAN; LEE, WANG-TSO
國立臺灣大學 2008 Mitral Annuloplasty in an Infant with Barth Syndrome and Severe Mitral Insufficiency: First Case Report and Determination of Annular Diameter 黃書健; 吳恩婷; 邱舜南; 胡務亮; 吳美環; 王水深; HUANG, SHU-CHIEN; WU, EN-TING; CHIU, SHUENN-NAN; HWU, WUH-LIANG; WU, MEI-HWAN; WANG, SHOEI-SHEN
國立臺灣大學 2008 Blood Spot Methylmalonic Acid as a Second-Tier Test for Tandem Mass Newborn Screening with Propionylcarnitine 陳品妏; 簡穎秀; 胡務亮; 陳麗珠; 曾士娟; CHEN, PIN-WUN; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHEN, LI-CHU; TSENG, SHIH-CHUAN
國立臺灣大學 2008 Myopathy in Gaucher Disease 蔡力凱; 簡穎秀; 楊智超; 胡務亮; TSAI, LI-KAI; CHIEN, YIN-HSIU; YANG, CHIH-CHAO; HWU, WUH-LIANG
國立臺灣大學 2008 Persistent Effect of Miglustat on Four Children with Niemann-Pick C Disease 簡穎秀; 胡務亮; 李妮鍾; 蔡力凱; 黃愛珠; 彭信逢; CHIEN, YIN-HSIU; HWU, WUH-LIANG; LEE, NI-CHUNG; TSAI, LI-KAI; HUANG, AI-CHU; PENG, STEVEN SHINN-FORNG
國立臺灣大學 2008 Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results from the Taiwan Screening Program 簡穎秀; 蔣書娟; 李妮鍾; 黃愛珠; 陳俊安; 吳美環; 黃佩欣; 蔡輔仁; 陳垣崇; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; LEE, NI-CHUNG; HUANG, AI-CHU; CHEN, CHUN-AN; WU, MEI-HWAN; HUANG, PEI-HSIN; TSAI, FUU-JEN; CHEN, YUAN-TSONG; HWU, WUH-LIANG
國立臺灣大學 2007 Neonatal Screening for Pompe Disease: A Two-Tier Screening Test 胡務亮; 蔣書娟; 簡穎秀; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; CHIEN, YIN-HSIU
國立臺灣大學 2007 Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2007 Effects of Enzyme Replacement Therapy on Global and Regional Left Ventricular Function in Patients with Infantile Pompe Disease 胡務亮; 簡穎秀; 李妮鍾; 邱舜南; 林銘泰; 王主科; 吳美環; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIU, SHUENN-NAN; LIN, MING-TAI; WANG, JOU-KOU; WU, MEI-HWAN
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

顯示項目 191-215 / 326 (共14頁)
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