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  1. NTU Scholars
  2. Research Outputs

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0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Showing results 1 to 20 of 365  next >
Issue DateTitleAuthor(s)SourcescopusWOSFulltext/Archive link
19993-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one caseLee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU ; Wang T.-R.; Millington D.S.Acta Paediatrica Taiwanica0
20163-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiencyChien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU ; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.Molecular Genetics and Metabolism1917
2013AADC deficiency. Occurring in humans, modeled in rodents.WUH-LIANG HWU ; Lee N.-C.; Chien Y.-H.; Muramatsu S.-I.; Ichinose H.Advances in Pharmacology110
2013AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in PatientsWUH-LIANG HWU ; Lee N.-C.; Shieh Y.-D.; Tzen K.-Y.; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H.Catecholamine Research in the 21st Century: Abstracts and Graphical Abstracts, 10th International Catecholamine Symposium, 20120
2012An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic deliveryLee N.-C.; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; WUH-LIANG HWU Genetic Vaccines and Therapy0
2008Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature reviewYen T.-Y.; WUH-LIANG HWU ; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C.European Journal of Pediatrics3932
2005Adenoviral interneuronal transportation after retrograde gene transfer in miceTsai L.-K.; Tsai M.-S.; Shyue S.-K.; WUH-LIANG HWU ; Li H.Molecular Brain Research22
2003Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testingWUH-LIANG HWU ; Chien Y.-H.; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y.Journal of the Formosan Medical Association4
2004Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese childrenLiang J.-S.; Lee W.-T.; WUH-LIANG HWU ; Peng S.S.-F.; Chu L.-W.; Wang P.-J.; Shen Y.-Z.Acta Paediatrica Taiwanica0
2016Advances in newborn screening for Pompe disease and resulting clinical outcomesChien Y.-H.; WUH-LIANG HWU ; Lee N.-C.Expert Opinion on Orphan Drugs0
2016Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disordersPosset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU ; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.Journal of Inherited Metabolic Disease3229
2017Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe diseaseChien Y.-H.; WUH-LIANG HWU ; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.Molecular Genetics and Metabolism Reports4
2008Alglucosidase Alfa (Myozyme?) in Infants and Children with Rapidly Progressive Pompe DiseaseCorzo D.; Byrne B.; WUH-LIANG HWU ; Leslie N.; Mandel H.; Nicolino M.Clinical Therapeutics0
2012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang S.-C.; WUH-LIANG HWU ; Lee N.-C.; Hsu L.-W.; Chien Y.-H.Molecular Genetics and Metabolism4747
1989Alkaptonuria in a Chinese babyWang T.-R.; WUH-LIANG HWU Journal of Inherited Metabolic Disease11
1999Allele distribution at the FMR1 locus in the general Chinese populationChiang S.-C.; Lee Y.-M.; Wang T.-R.; WUH-LIANG HWU Clinical Genetics1914
2013Analysis of lyso-globotriaosylsphingosine in dried blood spotsJohnson B.; Mascher H.; Mascher D.; Legnini E.; Hung C.Y.; Dajnoki A.; Chien Y.-H.; Mar?di L.; WUH-LIANG HWU ; Bodamer O.A.Annals of Laboratory Medicine1921
2020Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencingHwa H.-L.; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.; Li S.-F.; WUH-LIANG HWU ; Su C.-W.Legal Medicine33
2014Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseasesWUH-LIANG HWU ; Chien Y.-H.; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W.Topics in Current Chemistry55
2009Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairmentWu C.-C.; Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; WUH-LIANG HWU ; Hsu C.-J.Laryngoscope1313
Showing results 1 to 20 of 365  next >

臺大位居世界頂尖大學之列,為永久珍藏及向國際展現本校豐碩的研究成果及學術能量,圖書館整合機構典藏(NTUR)與學術庫(AH)不同功能平台,成為臺大學術典藏NTU scholars。期能整合研究能量、促進交流合作、保存學術產出、推廣研究成果。

To permanently archive and promote researcher profiles and scholarly works, Library integrates the services of “NTU Repository” with “Academic Hub” to form NTU Scholars.

總館學科館員 (Main Library)
醫學圖書館學科館員 (Medical Library)
社會科學院辜振甫紀念圖書館學科館員 (Social Sciences Library)

開放取用是從使用者角度提升資訊取用性的社會運動,應用在學術研究上是透過將研究著作公開供使用者自由取閱,以促進學術傳播及因應期刊訂購費用逐年攀升。同時可加速研究發展、提升研究影響力,NTU Scholars即為本校的開放取用典藏(OA Archive)平台。(點選深入了解OA)

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  • 網站簡介 (Quickstart Guide)
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  • 方案一:臺灣大學計算機中心帳號登入
    (With C&INC Email Account)
  • 方案二:ORCID帳號登入 (With ORCID)
  • 方案一:定期更新ORCID者,以ID匯入 (Search for identifier (ORCID))
  • 方案二:自行建檔 (Default mode Submission)
  • 方案三:學科館員協助匯入 (Email worklist to subject librarians)
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