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  1. NTU Scholars
  2. Research Outputs

Browsing by Author Hwu, Wuh-Liang


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Showing results 1 to 20 of 135  next >
Issue DateTitleAuthor(s)SourcescopusWOSFulltext/Archive link
2003Adrenoleukodystrophy Initially Diagnosed as Idiopathic Addison's Disease in Two Patients: The Importance of Early TestingHWU, WUH-LIANG; CHIEN, YIN-HSIU; LIANG, CHAO-HSUAN; LEE, WANG-TSO; WANG, PEN-JUNG; TSAI, WEN-YUJOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
2008Alglucosidase Alfa in Infants and Children with Advanced Pompe DiseaseHWU, WUH-LIANGMOLECULAR GENETICS AND METABOLISM
2008Alglucosidase Alfa in Infants and Children with Pompe DiseaseHWU, WUH-LIANGNEUROMUSCULAR DISORDERS
2008Alglucosidase Alpha in Infants and Children with Pompe's DiseaseHWU, WUH-LIANGEUROPEAN JOURNAL OF NEUROLOGY
2012Algorithm for Pompe disease newborn screening: Results from the Taiwan screening programChiang, Shu-Chuan; Hwu, Wuh-LiangMol. Genet. Metab. 
1989Alkaptonuria in a Chinese Baby Case ReportWang, T. R.; 胡務亮; Hwu, Wuh-LiangJournal of Inherited Metabolic Disease
1999Allele Distribution at the Fmr1 Locus in the General Chinese PopulationChiang, Shu-Chuan; Lee, Yu-May; Wang, Tso-Ren; Hwu, Wuh-LiangCLINICAL GENETICS
2015An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) DeficiencyHwu, Wuh-Liang; Muramatsu, Shin-Ichi; Lee, Ni-Chung; Chien, Yin-Hsiu; Tseng, Sheng-Hong; Tzen, Kai-Yuan; Snyder, Richard O.; Byrne, Barry J.; Tai, Chun-Hwei; Wu, Ruey-MeeiMol. Ther. 
2020Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencingHwa, Hsiao-Lin; Wu, Ming-Yih; Lee, James Chun-I; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; Hwu, Wuh-Liang; Su, Chih-WenLegal medicine (Tokyo, Japan)56
2020Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencingHwa, Hsiao-Lin; MING-YIH WU ; Lee, James Chun-I; Yin, Hsiang-I; Hsu, Pi-Mei; Li, Shwu-Fang; Hwu, Wuh-Liang; Su, Chih-WenLegal medicine (Tokyo, Japan)56
2016AROMATIC L-AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY - A NOVEL MUTATION CLINICAL, BIOCHEMICAL FEATURES AND GENE THERAPY OUTCOMESKanungo, Shibani; Hwu, Wuh-LiangMol. Genet. Metab. 
2016Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VILin, Hsiang-Yu; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Shan-Miao; Hung, Chung-Lieh; Chang, Chia-Ying; Chiu, Pao Chin; Tsai, Wen-Hui; Niu, Dau-Ming; Tsai, Fuu-Jen; Lin, Shio Jean; Hwu, Wuh-Liang; Lin, Ju-Li; Lin, Shuan-Pei; SHAU-PING LIN Molecular Genetics and Metabolism2225
2000Carnitine Transporter Defect Presenting with Hyperammonemia, Report of One CaseHWU, WUH-LIANGACTA PAEDIATRICA SINICA
1994Case Report:Fucosidosis in a Chinese Girl胡務亮; Chuang, S. C.; Wang, W. C.; Wang, T. R.; Hwu, Wuh-Liang; Chuang, S. C.; Wang, T. R.Journal of Inherited Metabolic Disease
2016Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012Lin, Hsiang-Yu; Chuang, Chih-Kuang; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei; SHAU-PING LIN Orphanet Journal of Rare Diseases1219
2001A Chinese Adult Onset Type Ii Citrullinaemia Patient with 851del4/1638ins 23 Mutations in the Slc25a13 GeneHWU, WUH-LIANGJOURNAL OF MEDICAL GENETICS
2008Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiencyNI-CHUNG LEE; MEI-HWEI CHANG; HUEY-LING CHEN; YIN-HSIU CHIEN; Yen-Hsuan Ni; WUH-LIANG HWU; CHEN, HUNG-WEN; CHEN, HUEY-LING; NI, YEN- HSUAN; LEE, NI-CHUNG; CHIEN, YIN-HSIU; HWU, WUH-LIANG; HUANG, YUAN-TE; CHIU, PAO-CHIN; CHANG, MEI-HWEIJournal of Pediatric Gastroenterology and Nutrition 159
2021Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; NI-CHUNG LEE ; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi22
2021Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN ; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi22
2021Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experienceCho, Chih-Yi; Tsai, Wen-Yu; CHENG-TING LEE ; Liu, Shih-Yao; Huang, Shu-Yuan; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-ChingJournal of the Formosan Medical Association = Taiwan yi zhi1
Showing results 1 to 20 of 135  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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