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Yin‐Hsiu Chien

national taiwan university hospital

51H指数
471论文数
1.1W被引数
收录论文 182
发表时间
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Nocturnal sleep abnormalities occur before motor function deterioration in early-treated patients with infantile-onset Pompe disease: a two-decade newborn screening cohort study早治疗婴儿型庞贝病患者夜间睡眠异常早于运动功能恶化：一项为期二十年的新生儿筛查队列研究
errNeuromuscular Disorders
IF2.8
err2026-09-12
err0
errOAAI
errYin-Hsuan Chien; Frank Leigh Lu; Pei-Lin Lee; Wei-Chung Hsu; Hui-An Chen; Rai-Hseng Hsu; Ni-Chung Lee; Wuh-Liang Hwu; Hsiao-Wen Chung; Yin-Hsiu Chien
err分享
err收藏
Degree of major histocompatibility complex mismatching may be detrimental to B cell functional reconstitution after hematopoietic stem cell transplantation in infants with severe combined immunodeficiency主要组织相容性复合体错配程度可能对重症联合免疫缺陷婴儿造血干细胞移植后B细胞功能重建有害
errJournal of Microbiology Immunology and Infection
IF3.7
err2026-08-21
err0
errOAAI
errChih-An Chen; Ching-Wei Lin; Yuan-Ning Yang; Chao-Neng Cheng; Jiann-Shiuh Chen; Yu-Chien Wang; Mei-Tsz Su; Chiu-Ching Kao; Chu-Han Hsieh; Hsin-Ying Hsieh; Hsiu-Hao Chang; Hsin-Hui Yu; Yin-Hsiu Chien; Chi-Chang Shieh
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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
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Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I光学相干断层扫描反射率作为唾液酸酶缺乏症I型的诊断工具和神经学生物标志物
errJournal of Inherited Metabolic Disease
IF3.8
err2026-04-21
err0
PREAI
errTeck Boon Tew; Chin-Hsien Lin; Hsueh-Wen Hsueh; Sung-Pin Fan; Ni-Chung Lee; Yin-Hsiu Chien; Wuh-Liang Hwu; Chao-Wen Lin
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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
Application of whole genome sequencing for carrier and diagnostic assessment of spinal muscular atrophy in Taiwan全基因组测序在台湾地区脊髓性肌萎缩症携带者筛查和诊断评估中的应用
errnpj Genomic Medicine
IF4.8
err2025-10-29
err0
errOAAI
errLi-Ling Lin; Pei-Miao Chien; Tzu-Hung Hsiao; Han-Yu Ye; Shu-Hsuan Liu; Tsang-Ming Ko; Chien-Hao Huang; Pei-Lung Chen; Wen-Chun Chen; Yuh-Tsyr Chou; Chao-Szu Wu; Hung-Hsin Chen; Yin-Hsiu Chien; Jacob Shu-Jui Hsu
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Updates of spinal muscular atrophy in advanced therapies高级疗法中脊髓性肌萎缩症的进展
errJournal of the Formosan Medical Association
IF2.5
err2025-10-18
err0
errOAAI
errWen-Chin Weng; Wang-Tso Lee; Yin-Hsiu Chien; Li-Kai Tsai
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err收藏
Functional Independence Assessment in Children and Adolescents with Achondroplasia: A Multicenter Cross-Sectional Study Using the WeeFIM Scale儿童和青少年软骨发育不全患者功能独立性评估：一项使用WeeFIM量表的多中心横断面研究
errDiagnostics 2025, Vol. 15, Page 2532
IF3.3
err2025-10-07
err0
errOAAI
errChung-Lin Lee; Hung-Hsiang Fang; Chih-Kuang Chuang; Dau-Ming Niu; Ju-Li Lin; Mei-Chyn Chao; Yen-Yin Chou; Pao Chin Chiu; Chia-Chi Hsu; Tzu-Hung Chu; Yin-Hsiu Chien; Huei-Ching Chiu; Ya-Hui Chang; Yuan-Rong Tu; Yun-Ting Lo; Hsiang-Yu Lin; Shuan-Pei Lin
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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
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Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population脐带血采样用于庞贝病的新生儿筛查，以及在一个亚洲人群中检测到一个新型致病变异和假缺乏变异。
errInternational Journal of Neonatal Screening 2025, Vol. 11, Page 74
IF4
err2025-09-04
err0
errOAAI
errFook-Choe Cheah; Sharifah Azween Syed Omar; Jasmine Lee; Zheng Jiet Ang; Anu Ratha Gopal; Wan Nurulhuda Wan Md Zin; Beng Kwang Ng; Shu-Chuan Chiang; Yin-Hsiu Chien
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Correction: Changes in forced vital capacity over ≤ 13 years among patients with late-onset Pompe disease treated with alglucosidase alfa: new modeling of real-world data from the Pompe Registry更正：使用α-葡糖苷酶治疗晚发型庞贝病患者13年内用力肺活量的变化：庞贝病登记注册真实世界数据的新建模
errJournal of Neurology
IF4.6
err2025-07-31
err0
errOAAI
errKenneth I. Berger; Yin-Hsiu Chien; Alberto Dubrovsky; Priya S. Kishnani; Juan C. Llerena; Edward Neilan; Mark Roberts; Bun Sheng; Julie L. Batista; Magali Periquet; Kathryn M. Wilson; Ans T. van der Ploeg
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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
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The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase AlfaMini-COMET临床研究：Avalglucosidase Alfa在先前接受Alglucosidase Alfa治疗的婴儿型糖原贮积症I型患儿中97周治疗的安全性与有效性
errThe Journal of Pediatrics
IF0
err2025-05-29
err0
PREAI
errDavid Kronn; James Davison; Alexander Broomfield; Anaïs Brassier; François Labarthe; Si Houn Hahn; Satoko Kumada; Hirotaka Ohki; Sasapin Grace Prakalapakorn; Catherine Wilson; Kristina An Haack; Olivier Huynh-ba; Susan Richards; Susan Sparks; Swathi Tammireddy; Tianyue Zhou; Yin-Hsiu Chien; Priya S. Kishnani;
err分享
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Pseudoxanthoma Elasticum-Like Phenotype With a Novel MGP Variant假性弹性黄色瘤样表型伴一种新型MGP变异
errJAMA DERMATOLOGY
IF11
err2025-05-21
err0
PREAI
errHsu, Yun-Shiuan (Olivia); Hsu, Rai-Hseng; Liau, Jau-Yu; Lee, Ni-Chung; Chien, Yin-Hsiu; Liao, Yi-Hua
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
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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
err分享
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Trappsol® CycloTM (hpβCd) for the long-term treatment of Niemann Pick type C1: Efficacy and safety data from 4 clinical studies and the ongoing expanded access program
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Martin-Hernandez, Elena; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph
err分享
err收藏
Analysis of juvenile vs. adult-onset Pompe disease: Insights from a multinational registry
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errLlerena, Juan; Chien, Yin-Hsiu; van der Ploeg, Ans; Roberts, Mark; Sheng, Bun; Dubrovsky, Alberto; Heuterman, Jennifer; Foster, Meredith C.; Kishnani, Priya
err分享
err收藏
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
Trappsol®CycloTM and NPC: Efficacy shown across individual 5D domains and utilization of future assessment tools to demonstrate clinically relevant outcomes
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errHastings, Caroline A.; Ezgu, Fatih S.; Giugliani, Roberto; Kiec-Wilk, Beata; Pawlinski, Lukasz; Mengel, Eugen; Mohand, Patricia Perez; Ucar, Seema; Sharma, Reena; Smith, Nicholas J. C.; Chien, Yin-Hsiu; Walterfang, Mark; Alsayed, Moeen; Goker-Alpan, Ozlem; Mendonca, Leonardo O.; Raiman, Julian A.; Spiegel, Ronen; Barone, Rita Maria Elisa; Burlina, Alberto; Calandra, Cristian R.; Bayarri, Jordi Gascon; Peters, Heidi; Murray, Bryan J.; Brecht, Andreas F.; Mejia, Joseph
err分享
err收藏

研究方向

暂时未获取到该数据
合作学者
合作期刊
R
Robert A. Hegele
H 指数: 118 · 论文数: 1.2K
R
Robert J. Desnick
H 指数: 111 · 论文数: 1.3K
E
Eugenio Mercuri
H 指数: 108 · 论文数: 1.1K
M
Michael H. Gelb
H 指数: 105 · 论文数: 828
V
Volker Straub
H 指数: 101 · 论文数: 960
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