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Showing items 121-145 of 326 (14 Page(s) Totally)
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| 國立臺灣大學 |
2010 |
Enzymatic Activity of Methionine Adenosyltransferase Variants Identified in Patients with Persistent Hypermethioninemia
|
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
|
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
|
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
|
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)
|
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 |
| 國立臺灣大學 |
2009 |
Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004
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林炫沛; 莊志光; 陳銘仁; 蔡輔仁; 趙美琴; 林秀, 娟; 蔡立平; 胡務亮; 林如立; LIN, SHUAN-PEI; CHUANG, CHIH-KUANG; CHEN, MING-REN; TSAI, FUU-JEN; CHAO, MEI-CHYN; LIN, SHIO-JEAN; TSAI, LI-PING; HWU, WUH-LIANG; LIN, JU-LI |
| 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 |
Cryptic Subtelomeric Deletion Plus Inverted Duplication at Chromosome 18q in a Fetus: Molecular Delineation by Multicolor Banding
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李妮鍾; 張舜評; 張正雄; 陳加祥; 李東杰; 林齊强; 胡務亮; 陳明; LEE, NI-CHUNG; CHANG, SHUN-PING; CHANG, CHENG-SHYONG; CHEN, CHIA-HSIANG; LEE, DONG-JAY; LIN, CHYI- CHYANG; HWU, WUH-LIANG; CHEN, MING |
| 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 |
Showing items 121-145 of 326 (14 Page(s) Totally)
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