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Showing items 111-120 of 326  (33 Page(s) Totally)
<< < 7 8 9 10 11 12 13 14 15 16 > >>
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Institution Date Title Author
國立臺灣大學 2012 A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child 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 2011 Monitoring Urinary Glucose Tetrasaccharide Biomarker in Patients with Infantile and Late-Onset Pompe Disease Identified through Newborn Screening 胡務亮; 簡穎秀; HWU, WUH-LIANG; CHIEN, YIN-HSIU
國立臺灣大學 2011 The Use of Dried Blood Spot Samples in the Diagnosis of Lysosomal Storage Disorders - Current Status and Perspectives 胡務亮; HWU, WUH-LIANG
國立臺灣大學 2010 Dysmyelination in Early-Treated Patients with Glutaric Aciduria Type 1 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 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 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 Foxl2 Mutations in Taiwanese Patients with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome 林瑋德; 周宜卿; 李妮鍾; 王仲興; 胡務亮; 林炫沛; 趙美琴; 蔡育勳; 蔡輔仁; LIN, WEI-DE; CHOU, I.-CHING; LEE, NI-CHUNG; WANG, CHUNG-HSING; HWU, WUH-LIANG; LIN, SHUAN-PEI; CHAO, MEI-CHYN; TSAI, YUHSIN; TSAI, FUU-JEN
國立臺灣大學 2010 Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience from Two Centers in Taiwan 鄭康祥; 劉美英; 高銓宏; 陳燕彰; 蕭廣仁; 劉孜孜; 林翔宇; 牛道明; 江傳箕; 林如立; 林炫沛; 李妮鍾; 胡務亮; CHENG, KANG-HSIANG; LIU, MEI-YING; KAO, CHUAN-HONG; CHEN, YANN-JANG; HSIAO, KWANG-JEN; LIU, TZE-TZE; LIN, HSIANG-YU; NIU, DAU-MING; CHIANG, CHUAN-CHI; LIN, JU-LI; LIN, SHUAN-PEI; LEE, NI-CHUNG; 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 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 Differences in the Predominance of Lysosomal and Autophagic Pathologies between Infants and Adults with Pompe Disease: Implications for Therapy 簡穎秀; 胡務亮; CHIEN, YIN-HSIU; HWU, WUH-LIANG

Showing items 111-120 of 326  (33 Page(s) Totally)
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