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"hwu wuh liang"的相关文件
显示项目 116-140 / 326 (共14页)
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| 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 |
Foxl2 Mutations in Taiwanese Patients with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
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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
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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
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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 |
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 |
Phenotypic Analyses and Mutation Screening of the Slc26a4 and Foxi1 Genes in 101 Taiwanese Families with Bilateral Nonsyndromic Enlarged Vestibular Aqueduct (Dfnb4) or Pendred Syndrome
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吳振吉; 呂盈璋; 陳培哲; 葉柏伶; 蘇怡寧; 胡務亮; 許權振; WU, CHEN-CHI; LU, YING-CHANG; CHEN, PEI-JER; YEH, PO-LIN; SU, YI-NING; HWU, WUH-LIANG; HSU, CHUAN-JEN |
| 國立臺灣大學 |
2010 |
Laboratory Diagnosis, Treatment, and Follow-up of 78 Patients with Aromatic L-Amino Acid Decarboxylase Deficiency
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胡務亮; 李旺祚; HWU, WUH-LIANG; LEE, WANG-TSO |
| 國立臺灣大學 |
2010 |
How Well Does Urinary Lyso-Gb(3) Function as a Biomarker in Fabry Disease?
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胡務亮; HWU, WUH-LIANG |
| 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 |
2010 |
Ethical Issues in Genetic Testing and the Ethical Guidelines for Genetic Counselling
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蔡甫昌; 楊尚儒; 張至寧; 胡務亮; 楊智超; TSAI, FU-CHANG; YANG, SHANG-JU; CHANG, CHIH-NING; HWU, WUH-LIANG; YANG, CHIH-CHAO |
| 國立成功大學 |
2009-10 |
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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Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lee, Ni-Chung; Chiang, Shu-Chuan; Dobrovolny, Robert; Huang, Ai-Chu; Yeh, Hui-Ying; Chao, May-Chin; Lin, Shio-Jean; Kitagawa, Teruo; Desnick, Robert J.; Hsu, Li-Wen |
| 國立成功大學 |
2009-05 |
Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004
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Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Niu, Dau-Ming; Chen, Ming-Ren; Tsai, Fuu-Jen; Chao, Mei-Chyn; Chiu, Pao-Ching; Lin, Shio-Jean; Tsai, Li-Ping; Hwu, Wuh-Liang; Lin, Ju-Li |
| 國立臺灣大學 |
2009 |
A Multicentre Retrospective Survey of Miglustat in Patients with Niemann- Pick Type C Disease
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
A Multicentre Retrospective Cohort Study of Miglustat in Patients with Niemann-Pick Disease Type C
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胡務亮; HWU, WUH-LIANG |
| 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 |
Natural History of Niemann-Pick Disease Type C in a Multi-Centre Observational Retrospective Cohort Study
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胡務亮; HWU, WUH-LIANG |
| 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 |
A Longitudinal Study of Taiwanese Sialidosis Type 1: An Insight into the Concept of Cherry-Red Spot Myoclonus Syndrome
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賴思佳; 翁意欣; 胡務亮; 陸清松; LAI, SZU-CHIA; WENG, YI-HSIN; HWU, WUH- LIANG; LU, CHIN-SONG |
| 國立臺灣大學 |
2009 |
Natural History of Niemann-Pick Disease Type C in a Multicentre Observational Retrospective Cohort Study
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Miglustat in Patients with Niemann-Pick Disease Type C (Np-C): A Multicenter Observational Retrospective Cohort Study
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胡務亮; HWU, WUH-LIANG |
| 國立臺灣大學 |
2009 |
Hyperammonemia and Positive Allopurinol Test in Hyperinsulinism- Hyperammonemia Syndrome: Taiwanese Case Report
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林龍昌; 胡務亮; 楊瑞成; LIN, LUNG-CHANG; HWU, WUH-LIANG; YANG, REI-CHENG |
显示项目 116-140 / 326 (共14页)
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