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"簡穎秀"的相關文件
顯示項目 61-110 / 162 (共4頁)
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| 國立臺灣大學 |
2012 |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
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Kuo, Wen-Hong; Lin, Po-Han; Huang, Ai-Chu; Chien, Yin-Hsiu; Liu, Tsang-Pai; Lu, Yen-Shen; Bai, Li-Yuan; Sargeant, Aaron M.; Lin, Ching-Hung; Cheng, Ann-Lii; Hsieh, Fon-Jou; Hwu, Wuh-Liang; Chang, King-Jen; 胡務亮; 郭文宏; 盧彥伸; 張金堅; 謝豐舟; 鄭安理; 黃愛珠; 簡穎秀; 林柏翰; 林璟宏 |
| 國立臺灣大學 |
2012 |
Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation
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Li, Sing-Chung; Hwu, Wuh-Liang; Lin, Ju-Li; Bali, Deeksha S.; Yang, Chen; Chu, Shih-Ming; Chien, Yin-Hsiu; Chou, Hung-Chieh; Chen, Chien-Yi; Hsieh, Wu-Shiun; Tsao, Po-Nien; Chen, Yuan-Tsong; Lee, Ni-Chung; 胡務亮; 謝武勳; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease
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Chien, Yin-Hsiu; Lee, Ni-Chung; Huang, Pei-Hsin; Lee, Wang-Tso; Thurberg, Beth L.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀; 黃佩欣 |
| 國立臺灣大學 |
2012 |
Analysis of lyso-globotriaosylsphingosine (LYSO-GB3) for the diagnosis of fabry disease in dried blood spots
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Johnson, Britt; Mascher, Hermann; Mascher, Daniel; Hung, Christina Y.; Chien, Yin-Hsiu; Bodamer, Olaf A.; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Gene Therapy for Aromatic L-Amino Acid Decarboxylase Deficiency
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Hwu, Wuh-Liang; Muramatsu, Shin-ichi; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Lee, Ni-Chung; Chien, Yin-Hsiu; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-Meei; 曾勝弘; 胡務亮; 戴春暉; 曾凱元; 李妮鍾; 簡穎秀; 吳瑞美 |
| 國立臺灣大學 |
2012 |
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
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Chiang, Shu-Chuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Hsu, Li-Wen; Chien, Yin-Hsiu; 胡務亮; 李妮鍾; 簡穎秀; 蔣書娟; 徐儷文 |
| 國立臺灣大學 |
2012 |
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B-12 metabolism: Diagnosis and novel mutation revealed by exome sequencing
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Kim, Jaeseung C.; Lee, Ni-Chung; Hwu, Paul Wuh-Liang; Chien, Yin-Hsiu; Fahiminiya, Somayyeh; Majewski, Jacek; Watkins, David; Rosenblatt, David S.; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child
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Liu, Hsin-Ming; Tsai, Li-Ping; Chien, Yin-Hsiu; Wu, Jia-Feng; Weng, Wen-Chin; Peng, Shinn-Forng; Wu, En-Ting; Huang, Pei-Hsin; Lee, Wang-Tso; Tsai, I-Jun; Hwu, Wuh-Liang; Lee, Ni-Chung; 胡務亮; 彭信逢; 吳恩婷; 吳嘉峰; 蔡宜蓉; 李旺祚; 李妮鍾; 簡穎秀; 黃佩欣; 翁妏謹 |
| 國立臺灣大學 |
2012 |
Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat
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Walterfang, Mark; Chien, Yin-Hsiu; Imrie, Jackie; Rushton, Derren; Schubiger, Danielle; Patterson, Marc C.; 簡穎秀 |
| 國立臺灣大學 |
2011 |
Monitoring Urinary Glucose Tetrasaccharide Biomarker in Patients with Infantile and Late-Onset Pompe Disease Identified through Newborn Screening
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胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU |
| 國立臺灣大學 |
2011 |
Slc25a13 Gene Mutations in Taiwanese Patients with Non-Viral Hepatocellular Carcinoma
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張魁文; 陳慧玲; 簡穎秀; 陳澤卿; CHANG, KUEI-WEN; CHEN, HUEY-LING; CHIEN, YIN-HSIU; CHEN, TSE-CHING |
| 國立臺灣大學 |
2010 |
Dysmyelination in Early-Treated Patients with Glutaric Aciduria Type 1
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李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Complex Rearrangements between Chromosomes 6, 10, and 11 with Multiple Deletions at Breakpoints
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李妮鍾; 陳明; 馬國欽; 李東杰; 王慈柔; 柯瑜媛; 簡穎秀; 胡務亮; LEE, NI-CHUNG; CHEN, MING; MA, GWO-CHIN; LEE, DONG-JAY; WANG, TZU-JOU; KE, YU-YUAN; CHIEN, YIN- HSIU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Diagnoses of Newborns and Mothers with Carnitine Uptake Defects through Newborn Screening
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李妮鍾; 鄧亮生; 簡穎秀; 陳俊安; 林秀娟; 邱寶琴; 黃愛珠; 胡務亮; LEE, NI-CHUNG; TANG, NELSON LEUNG-SANG; CHIEN, YIN- HSIU; CHEN, CHUN-AN; LIN, SHIO-JEAN; CHIU, PAO- CHIN; HUANG, AI-CHU; HWU, WUH-LIANG |
| 國立臺灣大學 |
2010 |
Reduction in Imiglucerase Dosage Causes Immediate Rise of Chitotriosidase Activity in Patients with Gaucher Disease
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簡穎秀; 李妮鍾; 蔡輔仁; 趙美琴; 胡務亮; CHIEN, YIN-HSIU; LEE, NI-CHUNG; TSAI, FUU-JEN; CHAO, MEI-CHYN; HWU, WUH-LIANG |
| 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 |
| 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 |
| 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 |
Prevalence of the Ivs6+4 a > T Mutation in Taiwanese Patients with Aromatic Amino Acid Decarboxylase Deficiency
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李妮鍾; 胡務亮; 簡穎秀; 李旺祚; 黃愛珠; 吳瑞美; LEE, NI-CHUNG; HWU, WUH-LIANG; CHIEN, YIN-HSIU; LEE, WANG-TSO; HUANG, AI-CHU; WU, RUEY-MEEI |
| 國立臺灣大學 |
2008 |
Torsade De Pointes Ventricular Tachycardia during Elective Intubation in a Patient with Pompe Disease
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黃柏愷; 王景甲; 邱舜南; 吳恩婷; 簡穎秀; 胡務亮; 王主科; 吳美環; HUANG, PO-KAI; WANG, CHING-CHIA; CHIU, SHUENN-NAN; WU, EN-TING; CHIEN, YIN-HSIU; HWU, WUH-LIANG; WANG, JOU-KOU; WU, MEI-HWAN |
| 國立臺灣大學 |
2008 |
Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug
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邱舜南; 簡穎秀; 吳美環; 王主科; 陳世杰; CHIU, SHUENN-NAN; CHIEN, YIN-HSIU; WU, MEI-HWAN; WANG, JOU-KOU; CHEN, SHYH-JYE |
| 國立臺灣大學 |
2008 |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
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李妮鍾; 簡穎秀; 彭信逢; 黃愛珠; 劉孜孜; 吳性慧; 陳麗珠; 徐儷文; 曾士娟; 胡務亮; LEE, NI-CHUNG; CHIEN, YIN-HSIU; PENG, STEVEN SHINN- FORNG; HUANG, AI-CHU; LIU, TZE-TZE; WU, SING-HUEI; CHEN, LI-CHU; HSU, LI-WEN; TSENG, SHIH-CHUAN; HWU, WUH-LIANG |
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