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"簡穎秀"
Showing items 56-80 of 162 (7 Page(s) Totally)
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| 國立臺灣大學 |
2013 |
Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
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Johnson, Britt; Mascher, Hermann; Mascher, Daniel; Legnini, Elisa; Hung, Christina Y.; Dajnoki, Angela; Chien, Yin-Hsiu; Marodi, Laszlo; Hwu, Wuh-Liang; Bodamer, Olaf A.; 胡務亮; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G > A mutation
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Chien, Yin-Hsiu; Bodamer, Olaf A.; Chiang, Shu-Chuan; Mascher, Hermann; Hung, Christina; Hwu, Wuh-Liang; 胡務亮; 簡穎秀; 蔣書娟 |
| 國立臺灣大學 |
2013 |
Restoration of the Motor and Behavior Phenotype with AAV9 in Aromatic L-Amino Acid Decarboxylase Deficiency Mice
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Lee, Ni-Chung; Chien, Yin-Hsiu; Muramatsu, Shin-ichi; Byrne, Barry J.; Hwu, Wuh-Liang; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2013 |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan (vol 98, pg 72, 2009)
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Lin, Hsiang-Yu; Chen, Ming-Ren; Chuang, Chih-Kuang; Chen, Chih-Ping; Lin, Dar-Shong; Chien, Yin-Hsiu; Ke, Yu-Yuan; Tsai, Fuu-Jen; Pan, Hui-Ping; Lin, Shio-Jean; Hwu, Wuh-Liang; Niu, Dau-Ming; Lee, Ni-Chung; Lin, Shuan-Pei; 胡務亮; 李妮鍾; 簡穎秀 |
| 國立臺灣大學 |
2012 |
Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Using High-Resolution Melting Analysis and a Clinical Scoring System
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Chen, Szu-Ta; Su, Yi-Ning; Ni, Yen-Hsuan; Hwu, Wuh-Liang; Lee, Ni-Chung; Chien, Yin-Hsiu; Chang, Cheng-Chi; Chen, Huey-Ling; Chang, Mei-Hwei; 胡務亮; 倪衍玄; 張美惠; 張正琪; 李妮鍾; 簡穎秀; 蘇怡寧; 陳思達; 陳慧玲 |
| 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 |
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