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Taiwan Academic Institutional Repository >
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"hwu wuh liang"
Showing items 251-275 of 326 (14 Page(s) Totally)
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| 國立臺灣大學 |
2004 |
Neuropsychological Profiles of Three Cases of X-linked Adrenoleukodystrophy
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林希陶; 盧小蓉; 蘇淑貞; 胡務亮; 黃愛珠; 宋維村; LIN, SHI-TAO; LU, HSIAO-JUNG; SU, SHU-CHEN; HWU, WUH-LIANG; HUANG, AI-CHU; SOONG, WEI-TSUEN |
| 國立成功大學 |
2003-12 |
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese
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Huang, Yuan-Te; Chien, Yin-Hsiu; Yeh, Hui-Ying; Lin, Shio-Jean; Lu, Frank-Li; Chou, Shi-Ping; Lin, Jing-Meei; Chiang, Shu-Chuan; Hwu, Wuh-Liang |
| 國立臺灣大學 |
2003 |
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations
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Kobayashi, Keiko; Lu, Yao Bang; Li, Meng Xian; Nishi, Ikumi; Hsiao, Kwang-Jen; Choeh, Kyuchul; Yang, Yanling; Hwu, Wuh-Liang; Reichardt, Juergen K.V.; Palmieri, Ferdinando; Okano, Yoshiyuki; Saheki, Takeyori |
| 國立臺灣大學 |
2003 |
Maple Syrup Urine Disease Presenting with Neonatal Status Epilepticus: Report of One Case
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王正一; 胡務亮; WANG, CHENG-YI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Natural History of Infantile Onset Pompe Disease(Iopd): A Study Report
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Infantile Onset Pompe Disease (Iopd) Natural History: A Study Report
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Two Novel Mutations in the Alpha-Galactosidase a Gene in Chinese Patients with Fabry Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Regulation of Gtp Cyclohydrolase I by Alternative Splicing in Mononuclear Cells
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Hwu, Wuh-Liang; Yeh, Hui-Ying; Fang, Shu-Wen; Chiang, Hao-Sen; Chiou, Yu-Wei; Lee, Yu-May; HWU, WUH-LIANG; CHIANG, HONG-SEN |
| 國立臺灣大學 |
2003 |
Gene Symbol: Otc. Disease: Ornithine Carbamoyltransferase Deficiency
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Common Variable Immunodeficiency with Hypoglycemia, Kikuchi Lymphadenitis , and Hemiparesis in Two Siblings
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胡務亮; 江伯倫; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2003 |
A Founder Mutation (R254x) of Slc22a5 (Octn2) in Chinese Primary Carnitine Deficiency Patients
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Debate in Newborn Screening for Metabolic Disorders in Taiwan--a Voluntary Screening? Mandatory Screening? Or Both?
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early Testing
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胡務亮; 簡穎秀; 梁昭鉉; 李旺祚; 王本榮; 蔡文友; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LIANG, CHAO-HSUAN; LEE, WANG-TSO; WANG, PEN-JUNG; TSAI, WEN-YU |
| 國立臺灣大學 |
2003 |
Living-Related Liver Transplantation for Methylmalonic Acidemia: Report of One Case.
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許瑞育; 簡穎秀; 朱紹盈; 呂立; 陳慧玲; 何明志; 李伯皇; 胡務亮; HSUI, JUI-YU; CHIEN, YIN-HSIU; CHU, SHAO-YIN; LU, FRANK L; CHEN, HUEY-LING; HO, MING-CHIH; LEE, PO-HUANG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese
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黃淵德; 簡穎秀; 葉慧英; 林秀娟; 呂立; 周西平; 林京美; 蔣書娟; 胡務亮; HUANG, YUAN-TE; CHIEN, YIN-HSIU; YEH, HUI-YING; LIN, SHIO-JEAN; LU, FRANK L; CHOU, SHI-PING; LIN, JING-MEEI; CHIANG, SHU-CHUAN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Pamidronate Treatment of Severe Osteogenesis Imperfecta in a Newborn Infant
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簡穎秀; 朱紹盈; 許嘉琪; 胡務亮; CHIEN, YIN-HSIU; CHU, SHAO-YIN; HSU, CHIA-CHI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2003 |
Common Variable Immunodeficiency with Hypoglycemia, Kikuchi Lymphadenitis , and Hemiparesis in Two Siblings
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簡穎秀; 胡務亮; 江伯倫; CHIEN, YIN-HSIU; HWU, WUH-LIANG; CHIANG, BOR-LUEN |
| 國立臺灣大學 |
2002 |
Mucopolysaccharidosis Type I in Taiwan
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Neonatal Screening for Congenital Adrenal Hyperplasia in Taiwan: A Pilot Study
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朱紹盈; 蔡文友; 陳麗新; 魏明麗; 簡穎秀; 胡務亮; CHU, SHAO-YIN; TSAI, WEN-YU; CHEN, LI- HSIN; WEI, MING-LEE; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Spontaneous Chylothorax in a Case of Cardio-Facio-Cutaneous Syndrome
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詹珮君; 邱顯清; 胡務亮; CHAN, PEI-CHUN; CHIU, HSIEN-CHING; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Clinical, 18f-Dopa Pet, and Genetic Analysis of an Ethnic Chinese Kindred with Early-Onset Parkinsonism and Parkin Gene Mutations
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吳瑞美; 胡務亮; WU, RUEY-MEEI; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Enzyme Replacement Therapy with Imiglucerase in Taiwanese Patients with Type I Gaucher Disease
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許嘉琪; 簡穎秀; 賴明陽; 胡務亮; HSU, CHIA-CHI; CHIEN, YIN-HSIU; LAI, MING-YANG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Cockayne Syndrome in a Family
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簡穎秀; 周弘傑; 胡務亮; CHIEN, YIN-HSIU; CHOU, HUNG-CHIEH; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
Screening of Mitochondrial DNA Mutation in Subjects with Non-Syndromic Familial Hearing Impairment in Taiwan
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2002 |
An Infant with Heart Murmur and Dysmorphic Face
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簡穎秀; 郭保麟; 胡務亮; CHIEN, YIN-HSIU; KUO, PAO-LIN; HWU, WUH-LIANG |
Showing items 251-275 of 326 (14 Page(s) Totally)
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