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Taiwan Academic Institutional Repository >
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"胡務亮"
Showing items 226-250 of 313 (13 Page(s) Totally)
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| 國立臺灣大學 |
2004 |
A Step-Wise Diagnosis of Fragile X Syndrome in Taiwan
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黃淵德; 蔣書娟; 曾慶誠; 劉敬萱; 簡穎秀; 胡務亮; HUANG, YUAN-TE; CHIANG, SHU-CHUAN; TZENG, CHING-CHERNG; LIU, CHING-HSUAN; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Poor Outcome for Neonatal-Type Nonketotic Hyperglycinemia Treated with High-Dose Sodium Benzoate and Dextromethorphan
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簡穎秀; 許嘉琪; 黃愛珠; 周西平; 呂立; 李旺祚; 胡務亮; CHIEN, YIN-HSIU; HSU, CHIA-CHI; HUANG, AI-CHU; CHOU, SHI-PING; LU, FRANK L; LEE, WANG-TSO; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Mutation Spectrum in Taiwanese Patients with Phenylalanine Hydroxylase Deficiency and a Founder Effect for the R241c Mutation
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簡穎秀; 蔣書娟; 黃愛珠; 周西平; 曾思珊; 黃淵德; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; CHOU, SHI-PING; TSENG, SZU-SAN; HUANG, YUAN-TE; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Phenylalanine Hydroxylase Deficiency: Interlligence of Patients after Early Dietary Treatment
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簡穎秀; 蔣書娟; 黃愛珠; 林京美; 丘彥南; 周西平; 王作仁; 胡務亮; CHIEN, YIN-HSIU; CHIANG, SHU-CHUAN; HUANG, AI-CHU; LIN, JING-MEEI; CHIU, YEN-NAN; CHOU, SHI-PING; WANG, TSO-REN; HWU, WUH-LIANG |
| 國立臺灣大學 |
2004 |
Trisomy 18 in Monozygotic Twins with Discordant Phenotypes
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李建德; 周弘傑; 曹伯年; 謝武勳; 胡務亮; LEE, JIAHN-TE; CHOU, HUNG-CHIEH; TSAO, PO-NIEN; HSIEH, WU-SHIUN; HWU, WUH-LIANG |
| 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 |
| 國立臺灣大學 |
2003 |
GTP Cyclohydrolase I 突變及Splicing之分子結構機轉(2/3)
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胡務亮 |
| 國立臺灣大學 |
2003 |
行政院國家科學委員會專題研究計畫成果報告:溶體儲積症之蛋白質體分析
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胡務亮 |
| 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 |
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 |
GTP Cyclohydrolase I 突變及Splicing之分子結構機轉(1/3)
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胡務亮 |
| 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 |
Showing items 226-250 of 313 (13 Page(s) Totally)
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