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W

Wuh‐Liang Hwu

National Taiwan University Hospital

58H指数
554论文数
1.5W被引数
收录论文 195
发表时间
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Automated machine learning–Assisted interpretation of GC–MS urinary organic acid profiles by integrating explicit metabolic markers and chromatographic patterns for rare organic acidemias机器学习辅助的GC-MS尿有机酸谱解析：整合显性代谢标志物和色谱模式以诊断罕见有机酸血症
errTalanta
IF6.1
err2026-09-30
err0
PREAI
errChin-Hsiang Ma; Yung-Cheng Jair; Ju-Yu Chen; Hui-An Chen; Rai-Hseng Hsu; Te-I Weng; Yin-Hsiu Chien; Wuh-Liang Hwu; Feipei Lai; Ni-Chung Lee; Pai-Shan Chen
err分享
err收藏
Reply to: Comment on “Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective” by Dr. Pandey回复：对潘代博士“成人神经退行性疾病基因检测：临床视角”一文的评论
errJournal of the Formosan Medical Association
IF2.5
err2026-06-12
err0
errOAAI
errNi-Chung Lee; Chin-Hsien Lin; Yin-Hsiu Chien; Wuh-Liang Hwu
err分享
err收藏
GPIHBP1 Autoantibody-Related Hypertriglyceridemia in Children: A Report of Two Cases and a Review of Pediatric Cases From the LiteratureGPIHBP1自身抗体相关高甘油三酯血症在儿童中的病例：两例报告及文献中儿科病例的综述
errMolecular Genetics & Genomic Medicine
IF1.6
err2026-05-06
err0
errOAAI
errHsu, Rai-Hseng; Hwu, Wuh-Liang; Yang, Feng-Jung; Lee, Ni-Chung; Chien, Yin-Hsiu
err分享
err收藏
Pharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up纹状体内注射依拉多加基因-艾普帕沃克对芳香族L-氨基酸脱羧酶缺乏的儿科患者的药效动力学、有效性和安全性研究：48周随访
errJournal of Inherited Metabolic Disease
IF3.8
err2026-02-22
err0
errOAAI
errCurry, Daniel J.; Pearl, Phillip L.; Stone, Scellig S. D.; Gilbert, Donald L.; Vadivelu, Sudhakar; Ben-zeev, Bruria; Vestal, Matthew; Zafar, Muhammad; Tai, Chun-Hwei; Chou, Sheng-Che; Zibly, Zion; Ungar, Lior; Parnes, Mered; Hull, Mariam; Emrick, Lisa; Werner, Christian; Krolick, Alexis; Penematsa, Vinay; Wang, Antonia; Rahman, Rezwanur; Golden, Lee; Chien, Yin-Hsiu; Hwu, Paul Wuh-Liang
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Genetic testing for adult-onset neurodegenerative diseases: A clinical perspective成人型神经退行性疾病的基因检测: 临床视角
errJournal of the Formosan Medical Association
IF2.5
err2026-01-20
err0
errOAAI
errNi-Chung Lee; Chin-Hsien Lin; Yin-Hsiu Chien; Wuh-Liang Hwu
err分享
err收藏
Eladocagene Exuparvovec for the Treatment of Aromatic l-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US PerspectiveEladocagene Exuparvovec用于芳香族L-氨基酸脱羧酶缺乏症（AADCd）的治疗：基于美国视角的经济评估
errPharmacoEconomics
IF4.6
err2025-09-24
err0
errOAAI
errRongrong Zhang; Thomas O’Connell; Berrin Monteleone; Yixi Teng; Paul Wuh-Liang Hwu; Paul Castellano; Ioannis Tomazos
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err收藏
Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease血浆胶质纤维酸性蛋白与Wilson's Disease中的脑金属负荷相关
errAnnals of Clinical and Translational Neurology
IF3.9
err2025-09-05
err0
errOAAI
errSung-Pin Fan; Ya-Fang Chen; Cheng-Hsuan Li; Yih-Chih Kuo; Ni-Chung Lee; Yin-Hsiu Chien; Wuh-Liang Hwu; Tai-Chung Tseng; Tung-Hung Su; Chien-Ting Hsu; Huey-Ling Chen; Chin-Hsien Lin; Yen-Hsuan Ni
err分享
err收藏
Machine learning to predict mitochondrial diseases by phenotypes利用表型预测线粒体疾病的人工智能方法
errMitochondrion
IF4.5
err2025-06-18
err0
errOAAI
errChieh-Wen Kuo; Hui-An Chen; Rai-Hseng Hsu; Chao-Szu Wu; Ching Hsu; Ming-Jen Lee; Yin-Hsiu Chien; Hsueh-Wen Hsueh; Feng-Jung Yang; Pi-Chuan Fan; Wen-Chin Weng; Ru-Jen Lin; Ta-Ching Chen; Chih-Chao Yang; Wang-Tso Lee; Wuh-Liang Hwu; Ni-Chung Lee
err分享
err收藏
Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia光学基因组作图结合全基因组测序可识别急性白血病中的复杂染色体结构变异
errFRONTIERS IN GENETICS
IF2.8
err2025-04-02
err0
errOAAI
errTsai, Meng-Ju Melody; Kao, Hsiao-Jung; Chen, Hsiao-Huei; Yu, Chih-Hsiang; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Kwok, Pui-Yan; Yang, Yung-Li
err分享
err收藏
NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish
errCELL DEATH DISCOVERY
IF7
err2025-03-01
err0
errOAAI
errChen, Yen-Lin; Chung, Brian Hon-Yin; Mimaki, Masakazu; Uchino, Shumpei; Chien, Yin-Hsiu; Mak, Christopher Chun-Yun; Peng, Steven Shinn-Forng; Wang, Wei-Chen; Lin, Yu-Li; Hwu, Wuh-Liang; Lee, Shyh-Jye; Lee, Ni-Chung
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err收藏
Clinically meaningful improvements after gene therapy for aromatic L-amino acid decarboxylase deficiency (AADCd) in the Peabody Developmental Motor Scale, Second Edition (PDMS-2) and correlation with Bayley-III scores and motor milestones
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-02-07
err0
errOAAI
errHwu, Wuh-Liang; Lee, Hui-Min; Peipert, John Devin; Zhang, Rongrong; Werner, Christian; Sierra, J. Rafael; O'Connell, Thomas; Woolley, Jonathan J.; Crowell, Marjorie; Wang, Antonia; Tomazos, Ioannis
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Efficacy of transitioning from alglucosidase alfa to avalglucosidase alfa in infantile-onset Pompe disease: A single-center cohort analysis从alglucosidase alfa转换为avalglucosidase alfa在婴儿型庞贝病中的疗效：一项单中心队列分析
errGENETICS IN MEDICINE
IF6.2
err2025-02-01
err0
PREAI
errChien, Yin-Hsuan; Chen, Hui-An; Hsu, Rai-Hseng; Yeh, Chien-Hua; Fang, Ching-Ya; Lee, Ni-Chung; Hwu, Wuh-Liang; Chien, Yin-Hsiu
err分享
err收藏
Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer基于全外显子组测序的上皮性卵巢癌同源重组缺陷检测
errJOURNAL OF OVARIAN RESEARCH
IF4.2
err2025-01-30
err0
errOAAI
errChiang, Ying-Cheng; Huang, Hsien-Neng; Kuo, Kuan-Ting; Hwu, Wuh-Liang; Lin, Po-Han
err分享
err收藏
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
errEBIOMEDICINE
IF10.8
err2024-12-01
err0
errOAAI
errLi, Chia-Yi; Chen, Li-Wen; Tsai, Meng-Che; Chou, Yen-Yin; Lin, Pei-Xuan; Chang, Yu-Ming; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chen, Hui-An; Lee, Ni-Chung; Su, Pen-Hua; Hsieh, Tzung-Chien; Klinkhammer, Hannah; Wang, Yi-Chieh; Huang, Yi-Ting; Krawitz, Peter M.; Lin, Sheng-Hsiang; Huang, Lynn L. H.; Chiang, Po-Min; Shih, Min-Hsiu; Chen, Peng-Chieh
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Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2024-11-27
err0
errOAAI
errWeng, Wen-Chin; Skopova, Vaclava; Baresova, Veronika; Liu, Yao-Lin; Hsueh, Hsueh-Wen; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Souckova, Olga; Hnizda, Ales; Kmoch, Stanislav; Lee, Ni-Chung; Zikanova, Marie
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Nigrostriatal tract defects in mice with aromatic L-amino acid decarboxylase deficiency
errNEUROBIOLOGY OF DISEASE
IF5.6
err2024-11-01
err0
errOAAI
errLee, Ni-Chung; Hsu, Pei-Chun; Liu, Yu-Han; Wang, Hao-Chun; Chen, Tsu-, I; Chien, Yin-Hsiu; Hwu, Wuh-Liang
err分享
err收藏
Gene therapy for ultrarare diseases: a geneticist's perspective
errJOURNAL OF BIOMEDICAL SCIENCE
IF12.1
err2024-08-13
err3
errOAAI
errHwu, Wuh-Liang
err分享
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Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study
errPROTEIN & CELL
IF12.8
err2024-06-25
err1
errOAAI
errZhang, Zhao; Jiang, Hua; Huang, Li; Liu, Sixi; Zhou, Xiaoya; Cai, Yun; Li, Ming; Gao, Fei; Liang, Xiaoting; Tsang, Kam-Sze; Chen, Guangfu; Ma, Chui-Yan; Chai, Yuet-Hung; Liu, Hongsheng; Yang, Chen; Yang, Mo; Zhang, Xiaoling; Han, Shuo; Du, Xin; Chen, Ling; Hwu, Wuh-Liang; Zhuo, Jiacai; Lian, Qizhou
err分享
err收藏
Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-05-24
err1
errOAAI
errHsueh, Sung-Ju; Lin, Chin-Hsien; Lee, Ni-Chung; Chang, Tung-Ming; Fan, Sung-Pin; Huang, Wan-De; Lin, Yea-Huey; Tsai, Li-Kai; Chien, Yin-Hsiu; Lee, Ming-Jen; Hwu, Wuh-Liang; Hsueh, Hsueh Wen; Yang, Chih-Chao
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Optimizing treatment outcomes: immune tolerance induction in Pompe disease patients undergoing enzyme replacement therapy
errFRONTIERS IN IMMUNOLOGY
IF5.9
err2024-04-23
err7
errOAAI
errChen, Hui-An; Hsu, Rai-Hseng; Fang, Ching-Ya; Desai, Ankit K.; Lee, Ni-Chung; Hwu, Wuh-Liang; Tsai, Fuu-Jen; Kishnani, Priya S.; Chien, Yin-Hsiu
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研究方向

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合作学者
合作期刊
R
Robert A. Hegele
H 指数: 118 · 论文数: 1.2K
E
Enrico Bertini
H 指数: 113 · 论文数: 1.3K
R
Robert J. Desnick
H 指数: 111 · 论文数: 1.3K
H
Henry J. Mankin
H 指数: 106 · 论文数: 1.1K
M
Michael H. Gelb
H 指数: 105 · 论文数: 828
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