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Taiwan Academic Institutional Repository >
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"胡務亮"
Showing items 106-130 of 313 (13 Page(s) Totally)
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| 國立臺灣大學 |
2009 |
Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset Gla Mutation C.936+919g > a (Ivs4+919g > a)
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胡務亮; 簡穎秀; 李妮鍾; 蔣書娟; 黃愛珠; 葉慧, 英; 趙美琴; 林秀娟; 徐儷文; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG; CHIANG, SHU-CHUAN; HUANG, AI-CHU; YEH, HUI-YING; CHAO, MEI-CHYN; LIN, SHIO-JEAN; HSU, LI-WEN |
| 國立臺灣大學 |
2009 |
A Longitudinal Study of Taiwanese Sialidosis Type 1: An Insight into the Concept of Cherry-Red Spot Myoclonus Syndrome
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賴思佳; 翁意欣; 胡務亮; 陸清松; LAI, SZU-CHIA; WENG, YI-HSIN; HWU, WUH- LIANG; LU, CHIN-SONG |
| 國立臺灣大學 |
2009 |
Natural History of Niemann-Pick Disease Type C in a Multicentre Observational Retrospective Cohort Study
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Hyperammonemia and Positive Allopurinol Test in Hyperinsulinism- Hyperammonemia Syndrome: Taiwanese Case Report
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林龍昌; 胡務亮; 楊瑞成; LIN, LUNG-CHANG; HWU, WUH-LIANG; YANG, REI-CHENG |
| 國立臺灣大學 |
2009 |
Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004
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林炫沛; 莊志光; 陳銘仁; 蔡輔仁; 趙美琴; 林秀, 娟; 蔡立平; 胡務亮; 林如立; LIN, SHUAN-PEI; CHUANG, CHIH-KUANG; CHEN, MING-REN; TSAI, FUU-JEN; CHAO, MEI-CHYN; LIN, SHIO-JEAN; TSAI, LI-PING; HWU, WUH-LIANG; LIN, JU-LI |
| 國立臺灣大學 |
2009 |
Caloric Restriction in Alstrom Syndrome Prevents Hyperinsulinemia
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李妮鍾; 簡穎秀; 蔡文友; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; TSAI, WEN-YU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Cryptic Subtelomeric Deletion Plus Inverted Duplication at Chromosome 18q in a Fetus: Molecular Delineation by Multicolor Banding
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李妮鍾; 張舜評; 張正雄; 陳加祥; 李東杰; 林齊强; 胡務亮; 陳明; LEE, NI-CHUNG; CHANG, SHUN-PING; CHANG, CHENG-SHYONG; CHEN, CHIA-HSIANG; LEE, DONG-JAY; LIN, CHYI- CHYANG; HWU, WUH-LIANG; CHEN, MING |
| 國立臺灣大學 |
2009 |
Eye Anomalies and Neurological Manifestations in Patients with Pax6 Mutations
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簡穎瑄; 黃祥博; 胡務亮; 簡穎秀; 曾慶昌; 李妮鍾; CHIEN, YIN-HSUAN; HUANG, HSIANG-PO; HWU, WUH-LIANG; CHIEN, YIN-HSIU; TSENG, CHING-CHANG; LEE, NI-CHUNG |
| 國立臺灣大學 |
2009 |
Glycogen Storage Disease Type Ib: The First Case in Taiwan
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蕭惠如; 張修豪; 胡務亮; 林青雲; 李妮鍾; 簡穎秀; HSIAO, HUI-JU; CHANG, HSIU-HAO; HWU, WUH-LIANG; LAM, CHING-WAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2009 |
Pseudogene-Derived Ikbkg Gene Mutations in Incontinentia Pigmenti
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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* |
Showing items 106-130 of 313 (13 Page(s) Totally)
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View [10|25|50] records per page
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