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"胡務亮"???jsp.browse.items-by-author.description???
Showing items 81-105 of 313 (13 Page(s) Totally)
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| 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
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胡務亮; HWU, WUH-LIANG |
| 臺大學術典藏 |
2010-06-29T03:14:39Z |
Management of Non-Neuronopathic Gaucher Disease with Special Reference to Pregnancy, Splenectomy, Bisphosphonate Therapy, Use of Biomarkers and Bone Disease Monitoring
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Yee, J.; Tylki-Szymanska, A.; Pastores, G. M.; Mistry, P. K.; Martins, A. M.; Maas, M.; Hwu, P.; Hollak, C. E. M.; Grabowski, G. A.; Goldblatt, J.; Dahl, S. vom; 胡務亮; Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D.; Dahl, S. vom; Goldblatt, J.; Grabowski, G. A.; Hollak, C. E. M.; Hwu, P.; Maas, M.; Martins, A. M.; Mistry, P. K.; Pastores, G. M.; Tylki-Szymanska, A.; Yee, J.; Cox, T. M.; Aerts, J. M. F. G.; Belmatoug, N.; Cappellini, M. D. |
| 中國醫藥大學 |
2010-04 |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
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林瑋德(Wei-De Lin); 周宜卿(I-Ching Chou); 李妮鐘(Ni-Chung Lee); 王仲興(Chung-Hsing Wang); 胡務亮; 林炫沛(Shuan-Pei Lin); 趙美琴(Mei-Chyn Chao); 蔡育勳(Yuhsin Tsai); 蔡輔仁(Fuu-Jen Tsai)* |
| 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 |
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 |
| 中國醫藥大學 |
2009-12 |
Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment
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蔡輔仁(Fuu-Jen Tsai);胡務亮* |
| 高雄醫學大學 |
2009 |
高胰島素合併高血氨症候群以高血氨及allopurinol test異常表現的台灣個案報告
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林龍昌;胡務亮;楊瑞成 ; Lung-Chang Lin;Wuh-Liang Hwu;Rei-Cheng Yang |
| 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 |
Showing items 81-105 of 313 (13 Page(s) Totally)
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