| 國立臺灣大學 |
2009 |
Application of Snapshot Multiplex Assays for Simultaneous Multigene Mutation Screening in Patients with Idiopathic Sensorineural Hearing Impairment
|
吳振吉; 呂盈璋; 陳培哲; 劉妍甄; 胡務亮; 許權振; WU, CHEN-CHI; LU, YING-CHANG; CHEN, PEI-JER; LIU, ALYSSA YAN-ZHEN; HWU, WUH-LIANG; HSU, CHUAN-JEN |
| 國立臺灣大學 |
2009 |
Clinical Features of Aadc-Deficient Children and Therapeutic Prospects
|
胡務亮; 簡穎秀; 李妮鍾; 李旺祚; 吳瑞美; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LEE, WANG-TSO; WU, RUEY-MEEI |
| 國立臺灣大學 |
2008-10 |
臺灣遺傳檢驗與諮詢施行之現況分析與倫理反省
|
蔡甫昌; 張至寧; 楊智超; 胡務亮 |
| 中國醫藥大學 |
2008-08 |
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients
|
林瑋德(Wei-De Lin); 林炫沛; 王仲興(Chung-Hsing Wang); 胡務亮; 莊志光; 林秀捐; 蔡育勳(Yuhsin Tsai); 陳持平(Chih-Ping Chen); 蔡輔仁(Fuu-Jen Tsai)* |
| 中國醫藥大學 |
2008-07-01 |
Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program
|
簡穎秀(YH Chien); 蔣書捐(SC Chiang); XK Zhang(XK Zhang); J Keutzer(J kertzer); 李妮鍾(NC Lee); 黃愛珠(AC Huang); 陳俊安(CA Chen); 吳美環(MH Wu); 黃佩欣(PH Huang); 蔡輔仁(Fuu-Jen Tsai); 陳垣崇(YT Chen); 胡務亮* |
| 中國醫藥大學 |
2008-06 |
Novel human pathological mutations
|
林瑋德(Wei-De Lin); 胡務亮; 王仲興(Chung-Hsing Wang); 陳持平(Chih-Ping Chen); 蔡輔仁(Fuu-Jen Tsai)* |
| 中國醫藥大學 |
2008-02 |
Novel human pathological mutations
|
林瑋德(Wei-De Lin); 胡務亮; 劉素卿(Su-Ching Liu); 蔡輔仁(Fuu-Jen Tsai)* |
| 國立臺灣大學 |
2008 |
Clinical Response to Recombinant Acid Alpha-Glucosidase Is Predicted by Cardiac Outcome Measures in Children with Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Development of a Disease Severity Scoring System for Type 1 Gaucher Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Acute Metabolic Decompensation and Sudden Death in Barth Syndrome: Report of a Family and a Literature Review
|
顏廷聿; 胡務亮; 簡穎秀; 吳美環; 林銘泰; 曹龍彥; 謝武勳; 李妮鍾; YEN, TING-YU; HWU, WUH-LIANG; CHIEN, YIN- HSIU; WU, MEI-HWAN; LIN, MING-TAI; TSAO, LON-YEN; HSIEH, WU-SHIUN; LEE, NI-CHUNG |
| 國立臺灣大學 |
2008 |
Bone Marrow Transplantation Results in Donor-Derived Hepatocytes in an Animal Model of Inherited Cholestatic Liver Disease
|
陳慧玲; 陳惠玲; 胡務亮; 鄭永銘; 張美惠; CHEN, HUEY-LING; CHEN, HUI-LING; HWU, WUH-LIANG; JENG, YUNG-MING; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2008 |
Chubby Face and the Biochemical Parameters for the Early Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency
|
陳弘文; 陳慧玲; 倪衍玄; 李妮鍾; 簡穎秀; 胡務亮; 黃淵德; 邱寶琴; 張美惠; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEI |
| 國立臺灣大學 |
2008 |
Detection and Imaging of Non-Contractile Inclusions and Sarcomeric Anomalies in Skeletal Muscle by Second Harmonic Generation Combined with Two-Photon Excited Fluorescence
|
胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
Early Detection of Glutaric Aciduria Type I by Newborn Screening in Taiwan
|
謝錦桐; 胡務亮; 黃淵德; 黃愛珠; 王曉芳; 胡閔慧; 簡穎秀; HSIEH, CHIN-TUNG; HWU, WUH-LIANG; HUANG, YUAN-TE; HUANG, AI-CHU; WANG, SHIAO-FANG; HU, MIN-HUEI; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2008 |
Genetic Analysis of Mucopolysaccharidosis Type Vi in Taiwanese Patients
|
林瑋德; 林炫沛; 王仲興; 胡務亮; 莊志光; 林秀娟; 陳持平; 蔡輔仁; LIN, WEI-DE; LIN, SHUAN-PEI; WANG, CHUNG- HSING; HWU, WUH-LIANG; CHUANG, CHIH-KUANG; LIN, SHIO-JEAN; CHEN, CHIH-PING; TSAI, FUU- JEN |
| 國立臺灣大學 |
2008 |
Hsp27 Decreases Inclusion Body Formation from Mutated Gtp-Cyclohydrolase I Protein
|
邱昱維; 胡務亮; 李玉梅; CHIOU, YU-WEI; HWU, WUH-LIANG; LEE, YU- MAY |
| 國立臺灣大學 |
2008 |
Identification of Eight Novel Mutations of the Acid Alpha-Glucosidase Gene Causing the Infantile or Juvenile Form of Glycogen Storage Disease Type Ii
|
萬磊; 李正淳; 許欽木; 胡務亮; 楊智超; 蔡長海; 蔡輔仁; WAN, LEI; LEE, CHENG-CHUN; HSU, CHIN-MOO; HWU, WUH-LIANG; YANG, CHIH-CHAO; TSAI, CHANG-HAI; TSAI, FUU-JEN |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Alglucosidase Alpha in Infants and Children with Pompe's Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
A Clinical Trial of Idursulease in Hunter Syndrome Patients 5 Years Old and Younger
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Development of a Disease Severity Scoring System for Type I Gaucher Disease
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Miglustat in Patients with Niemann-Pick Type C Disease (Npc): A Multicentre Retrospective Survey
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Pompe Disease in Thai Infants - Report of 4 Cases
|
胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2008 |
Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders
|
胡務亮; HWU, WUH-LIANG |
