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"簡穎秀"的相關文件
顯示項目 81-105 / 162 (共7頁)
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| 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 |
| 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 |
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 |
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 |
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 |
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 |
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 |
2008-07-31 |
溶小體-酸性α-葡萄糖甘酉每基因與相關調控基因變異與低酵素活性之相關性 （新制多年期第1年）
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簡穎秀 |
| 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 |
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 |
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 |
顯示項目 81-105 / 162 (共7頁)
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