| 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 |
| 國立臺灣大學 |
2006 |
”小兒科住院醫師訓練研討會”記事
|
胡務亮 |
| 國立臺灣大學 |
2006 |
第一屆罕見疾病藥物供應製造及研究發展貢獻獎基因醫學部得獎感言
|
胡務亮 |
| 國立臺灣大學 |
2006 |
『春之祭酒 罕見疾病義診暨聯誼活動』-- 基因醫學部成立二十週年活動系列之一
|
胡務亮; 黃愛珠 |
| 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 |
| 國立臺灣大學 |
2005-09-20 |
遺傳疾病諮詢服務窗口計畫展示及罕見先天性代謝異常個案報告
|
胡務亮; 余家利 |
