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Hsiang‐Yu Lin

China Medical University

38H指数
329论文数
5.8K被引数
收录论文 69
发表时间
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Early Potentially Irreversible Cardiac Damage in Fabry Disease Precedes Gb3 Inclusion Body Formation法布里病早期潜在不可逆的心脏损伤早于Gb3包涵体形成
err2025-05-01
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PREAI
errLee, Chung-Lin; Chen, Pei-Sin; Lu, Yu-Ying; Chiang, Yu-Ting; Yen, Ching-Tzu; Huang, Chun-Ying; Cheng, Yen-Fu; Lin, Hsiang-Yu; Chen, Yun-Ru; Niu, Dau-Ming
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Long-term outcomes of MPS IVA patients treated with elosulfase alfa: Findings from the Morquio A Registry Study (MARS) after 10 years
err2025-02-01
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PREAI
errMitchell, John J.; Burton, Barbara K.; Campeau, Philippe M.; Ellaway, Carolyn; Guffon, Nathalie; Hughes, Derralynn; Hunt, Abigail; Lail, Alice; Lin, Hsiang-Yu; Lin, Shuan-Pei; Magner, Martin; Reddy, Sheila; Reisewitz, Pascal; Stepien, Karolina M.
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Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks
err2025-01-21
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errLee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Li, Shuan-Pei
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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch-Nyhan Syndrome: A Case Series全外显子组测序有助于lesch-nyhan综合征的早期诊断: 病例系列
err2024-12-13
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errFang, Hung-Hsiang; Lee, Chung-Lin; Chen, Hui-Ju; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
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Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan
err2024-12-01
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PREAI
errLin, Hsiang-Yu; Lee, Chung-Lin; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Wu, Jun-Yi; Niu, Dau-Ming; Liu, Mei-Ying; Liu, Hsin-Yun; Chen, Hsiao-Jan; Kao, Shu-Min; Wang, Li-Yun; Ho, Huey-Jane; Chuang, Chih-Kuang; Lin, Shuan-Pei
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Genetic and Phenotypic Spectrum of KMT2D Variants in Taiwanese Case Series of Kabuki Syndrome
err2024-08-20
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errLee, Chung-Lin; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Ju-Li; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
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Mature neurons from iPSCs unveil neurodegeneration-related pathways in mucopolysaccharidosis type II: GSK-3β inhibition for therapeutic potential
err2024-04-29
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errChen, Tzu-Yu; Lin, Shuan-Pei; Huang, De-Fong; Huang, Hsien-Sung; Tsai, Feng-Chiao; Lee, Li-Jen; Lin, Hsiang-Yu; Huang, Hsiang-Po
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Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome
err2024-04-19
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errLee, Chung-Lin; Chuang, Chih-Kuang; Chen, Ming-Ren; Lin, Ju-Li; Chiu, Huei-Ching; Chang, Ya-Hui; Tu, Yuan-Rong; Lo, Yun-Ting; Lin, Hsiang-Yu; Lin, Shuan-Pei
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Unveiling irreversible cellular injury in cardiac variant Fabry disease patients: Early detection beyond typical pathological alterations in endomyocardial biopsies
err2024-02-01
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PREAI
errNiu, Dau-Ming; Lee, Chung-Lin; Chen, Yun-Ru; Yen, Ching-Tzu; Chiang, Yu-Ting; Huang, Chun-Ying; Cheng, Yen-Fu; Lin, Hsiang-Yu; Chen, Pei-Sin
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Quantitative DNA Methylation Analysis and Epigenotype-Phenotype Correlations in Taiwanese Patients with Silver-Russell Syndrome
err2024-01-01
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errLin, Hsiang -Yu; Lee, Chung-Lin; Tu, Yuan-Rong; Chang, Ya-Hui; Niu, Dau-Ming; Chang, Chia-Ying; Chiu, Pao Chin; Chou, Yen -Yin; Hsiao, Hui -Pin; Tsai, Meng-Che; Chao, Mei-Chyn; Tsai, Li -Ping; Yang, Chia-Feng; Su, Pen-Hua; Pan, Yu -Wen; Lee, Chen-Hao; Chu, Tzu-Hung; Chuang, Chih-Kuang; Lin, Shuan-Pei
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Endoscopic and Image Analysis of the Airway in Patients with Mucopolysaccharidosis Type IVA
err2023-03-09
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errLee, Yi-Hao; Su, Chin-Hui; Lin, Che-Yi; Lin, Hsiang-Yu; Lin, Shuan-Pei; Chuang, Chih-Kuang; Lee, Kuo-Sheng
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22q11.2 Deletion Syndrome in Taiwan: Clinical Presentation and Immune System Status of Patients
err2023-01-01
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errLee, Chung-Lin; Lin, Shan-Miao; Chen, Ming-Ren; Chuang, Chih-Kuang; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei
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The Anesthetic Strategy for Patients with Mucopolysaccharidoses: A Retrospective Cohort Study
err2022-08-21
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errLao, Hsuan-Chih; Lin, Ying-Chun; Liang, Muh-Lii; Yang, Ying-Wei; Huang, Ya-Hsien; Chan, Ying-Lun; Hsu, Yung-Wei; Lin, Shuan-Pei; Chuang, Chih-Kuang; Cheng, Jen-Kun; Lin, Hsiang-Yu
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Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis
err2022-08-20
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errLee, Chung-Lin; Chuang, Chih-Kuang; Syu, Yu-Min; Chiu, Huei-Ching; Tu, Yuan-Rong; Lo, Yun-Ting; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei
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Functional Independence of Taiwanese Children with Osteogenesis Imperfecta
err2022-07-24
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errSyu, Yu-Min; Lee, Chung-Lin; Chuang, Chih-Kuang; Chiu, Huei-Ching; Chang, Ya-Hui; Lin, Hsiang-Yu; Lin, Shuan-Pei
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