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Wuh‐Liang Hwu

china medical university hospital

58H-index
555Paper Count
1.5WCitation Count
Published Papers 196
Publication Date
Automated machine learning–Assisted interpretation of GC–MS urinary organic acid profiles by integrating explicit metabolic markers and chromatographic patterns for rare organic acidemias
errTalanta
IF6.1
err2026-09-30
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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
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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
err2026-02-22
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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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Eladocagene Exuparvovec for the Treatment of Aromatic l-Amino Acid Decarboxylase Deficiency (AADCd): An Economic Evaluation from a US Perspective
err2025-09-24
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errOAAI
errRongrong Zhang; Thomas O’Connell; Berrin Monteleone; Yixi Teng; Paul Wuh-Liang Hwu; Paul Castellano; Ioannis Tomazos
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Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease
err2025-09-05
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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
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Machine learning to predict mitochondrial diseases by phenotypes
err2025-06-18
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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
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Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia
err2025-04-02
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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
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NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish
err2025-03-01
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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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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
err2025-02-07
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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
err2025-02-01
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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
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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer
err2025-01-30
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errOAAI
errChiang, Ying-Cheng; Huang, Hsien-Neng; Kuo, Kuan-Ting; Hwu, Wuh-Liang; Lin, Po-Han
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Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease
err2024-12-01
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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
err2024-11-27
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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
err2024-11-01
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errOAAI
errLee, Ni-Chung; Hsu, Pei-Chun; Liu, Yu-Han; Wang, Hao-Chun; Chen, Tsu-, I; Chien, Yin-Hsiu; Hwu, Wuh-Liang
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Lentivirus-modified hematopoietic stem cell gene therapy for advanced symptomatic juvenile metachromatic leukodystrophy: a long-term follow-up pilot study
err2024-06-25
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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
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Unique clinical and electrophysiological features in the peripheral nerve system in patients with sialidosis - a case series study
err2024-05-24
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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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