中國醫藥大學 |
2008-06 |
Novel human pathological mutations
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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胡務亮; HWU, WUH-LIANG |
國立臺灣大學 |
2008 |
Alglucosidase Alfa in Infants and Children with Advanced Pompe Disease
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胡務亮; HWU, WUH-LIANG |
國立臺灣大學 |
2008 |
Alglucosidase Alpha in Infants and Children with Pompe's Disease
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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
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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
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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
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胡務亮; HWU, WUH-LIANG |
國立臺灣大學 |
2008 |
Pompe Disease in Thai Infants - Report of 4 Cases
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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
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胡務亮; HWU, WUH-LIANG |
國立臺灣大學 |
2008 |
Neonatal Screening for Pompe Disease: A 2-Tier Screening Test
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胡務亮; 蔣書娟; 李妮鍾; 簡穎秀; HWU, WUH-LIANG; CHIANG, SHU-CHUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU |
國立臺灣大學 |
2008 |
An Update on Newborn Screening for Pompe Disease
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
國立臺灣大學 |
2008 |
Screening for Pompe Disease and Fabry Disease
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胡務亮; 簡穎秀; 李妮鍾; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, NI- CHUNG |
國立臺灣大學 |
2008 |
A Promoter Sequence Variant of Znf750 Is Linked with Familial Psoriasis
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楊奇凡; 胡務亮; 楊麗珍; 鍾文宏; 簡穎秀; 范盛娟; 廖楓; 陳垣崇; YANG, CHI-FAN; HWU, WUH-LIANG; YANG, LI- CHENG; CHUNG, WEN-HUNG; CHIEN, YIN-HSIU; FANN, CATHY SHENG-JIUAN; LIAO, FANG; CHEN, YUAN- TSONG |
國立臺灣大學 |
2008 |
Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring
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胡務亮; HWU, WUH-LIANG |