| 國立臺灣大學 |
2009 |
Pseudogene-Derived Ikbkg Gene Mutations in Incontinentia Pigmenti
|
李妮鍾; 胡務亮; 簡穎秀; 柯滄銘; LEE, NI-CHUNG; HWU, WUH-LIANG; CHIEN, YIN-HSIU; KO, TSANG-MING |
| 國立臺灣大學 |
2009 |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
|
陳蕾如; 陳俊安; 邱舜南; 簡穎秀; 李妮鍾; 林銘泰; 胡務亮; 王主科; 吳美環; CHEN, LEI-RU; CHEN, CHUN-AN; CHIU, SHUENN-NAN; CHIEN, YIN-HSIU; LEE, NI-CHUNG; LIN, MING-TAI; HWU, WUH-LIANG; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2009 |
Schizencephaly in Leopard Syndrome
|
梁昭鉉; 簡穎秀; 胡務亮; 葉樹人; 彭信逢; LIANG, JAO-SHWANN; CHIEN, YIN-HSIU; HWU, WUH-LIANG; YEH, SHU-JEN; PENG, STEVEN SHINN-FORNG; HWU, WUH- LIANG |
| 國立臺灣大學 |
2009 |
Simultaneous Detection of Mitochondrial DNA Depletion and Single-Exon Deletion in the Deoxyguanosine Gene Using Array-Based Comparative Genomic Hybridisation
|
李妮鍾; 胡務亮; 黃文彰; 黃張梨君; LEE, NI-CHUNG; HWU, WUH-LIANG; HUANG, WEN-CHANG; WONG, LEE-JUN C. |
| 國立臺灣大學 |
2009 |
Somatic and Germ-Line Mosaicism in Rubinstein-Taybi Syndrome
|
李妮鍾; 胡務亮; LEE, NI-CHUNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
X-Linked Liver Glycogenosis in a Taiwanese Family: Transmission from Undiagnosed Males
|
陳思達; 陳慧玲; 倪衍玄; 簡穎秀; 鄭永銘; 張美惠; 胡務亮; CHEN, SZU-TAH; CHEN, HUEY-LING; NI, YEN-HSUAN; CHIEN, YIN-HSIU; JENG, YUNG-MING; CHANG, MEI-HWEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Brain Myelination Defects in Infantile Onset Pompe Disease
|
簡穎秀; 彭信逢; 曾文毅; 胡務亮; CHIEN, YIN-HSIU; PENG, STEVEN SHINN-FORNG; TSENG, WEN-YIH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy
|
蔡力凱; 楊智超; 丁振紘; 蘇怡寧; 胡務亮; 李鴻; TSAI, LI-KAI; YANG, CHIH-CHAO; TING, CHEN-HON; SU, YI-NING; HWU, WUH-LIANG; LI, HUNG |
| 國立臺灣大學 |
2009 |
Cystathionine Gamma-Lyase: Clinical, Metabolic, Genetic, and Structural Studies
|
簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
|
簡穎秀; 李妮鍾; 蔣書娟; 黃愛珠; 吳美環; 黃佩欣; 蔡輔仁; 陳垣崇; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; WU, MEI-HWAN; HUANG, PEI-HSIN; TSAI, FUU-JEN; CHEN, YUAN-TSONG; HWU, WUH-LIANG |
| 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 |
