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"簡穎秀"
Showing items 76-85 of 162 (17 Page(s) Totally)
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| 國立臺灣大學 |
2010 |
Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott- Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations
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李文益; 黃璟隆; 江東和; 巫康熙; 簡穎秀; 張魁文; LEE, WEN-I; HUANG, JING-LONG; JAING, TANG-HER; WU, KANG-HSI; CHIEN, YIN-HSIU; CHANG, KUEI-WEN |
| 國立臺灣大學 |
2010 |
Differences in the Predominance of Lysosomal and Autophagic Pathologies between Infants and Adults with Pompe Disease: Implications for Therapy
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Enzymatic Activity of Methionine Adenosyltransferase Variants Identified in Patients with Persistent Hypermethioninemia
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Genetic Heterozygosity and Pseudodeficiency in the Pompe Disease Newborn Screening Pilot Program
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簡穎秀; 李妮鍾; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Nationwide Survey of Extended Newborn Screening by Tandem Mass Spectrometry in Taiwan
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牛道明; 簡穎秀; 江傳箕; 何慧珍; 胡務亮; 蔣思慧; 高銓宏; 劉孜孜; 江宏; 蕭廣仁; NIU, DAU-MING; CHIEN, YIN-HSIU; CHIANG, CHUAN-CHI; HO, HUI-CHEN; HWU, WUH-LIANG; CHIANG, SZU-HUI; KAO, CHUAN-HONG; LIU, TZE-TZE; CHIANG, HUNG; HSIAO, KWANG-JEN |
| 國立臺灣大學 |
2010 |
Newborn Screening for Fabry Disease by Measuring Gla Activity Using Tandem Mass Spectrometry
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簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Newborn Screening Healthcare Information System Based on Service-Oriented Architecture
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謝嵩淮; 謝筱齡; 簡穎秀; 翁永卿; 許凱平; 陳啟煌; 杜建明; 賴飛羆; HSIEH, SUNG-HUAI; HSIEH, SHEAU-LING; CHIEN, YIN-HSIU; WENG, YUNG-CHING; HSU, KAI-PING; CHEN, CHI-HUANG; TU, CHIEN-MING; LAI, FEIPEI |
| 國立臺灣大學 |
2010 |
Newborn Screening
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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 |
2009 |
龐貝氏症:新生兒篩檢發現個案之突變分析及治療成果
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簡穎秀; Chien, Yin-Hsiu |
| 國立臺灣大學 |
2009 |
Elevation of Urinary Globotriaosylceramide (Gl-3) in Newborns with Low a- Galactosidase a Activity
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
Showing items 76-85 of 162 (17 Page(s) Totally)
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