日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers

GSD Ia 和 Ib 患者血清和肝脏蛋白质组学分析：对并发症机制和循环生物标志物的深入了解

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-026-07747-5
Xiao, Ruiqi; Gross-Valle, Candelas; Gerding, Albert; Thorne, Adam M; Oosterveer, Maaike H; Derks, Terry G J; de Meijer, Vincent E; Heiner-Fokkema, M Rebecca; Bakker, Barbara M; Wolters, Justina C
发表日期：2026
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TDP43 autoregulation gives rise to dominant negative isoforms that are tightly controlled by transcriptional and post-translational mechanisms

TDP43 的自身调控产生显性负性异构体，这些异构体受到转录和翻译后机制的严格控制。

期刊:Cell Reports
影响因子:7.5
doi:10.1016/j.celrep.2024.115113
Megan M Dykstra,Kaitlin Weskamp,Nicolás B Gómez,Jacob Waksmacki,Elizabeth Tank,M Rebecca Glineburg,Allison Snyder,Emile Pinarbasi,Michael Bekier,Xingli Li,Morgan R Miller,Jen Bai,Shameena Shahzad,Neha Nedumaran,Clare Wieland,Corey Stewart,Sydney Willey,Nikolas Grotewold,Jonathon McBride,John J Moran,Aditya V Suryakumar,Michael Lucas,Peter M Tessier,Michael Ward,Peter K Todd,Sami J Barmada
信号转导
TDP43
发表日期：2025
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Engineering mechanisms of proton-coupled electron transfer to a titanium-substituted polyoxovanadate-alkoxide

钛取代多钒酸盐醇盐的质子耦合电子转移的工程机制

期刊:Chemical Science
影响因子:7.4
doi:10.1039/d4sc06468b
Cooney, Shannon E; Duggan, S Genevieve; Walls, M Rebecca A; Gibson, Noah J; Mayer, James M; Miro, Pere; Matson, Ellen M
发表日期：2025
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Impact of Anionic Dopants on H Atom Uptake at Polyoxovanadate-Alkoxide Surfaces

阴离子掺杂剂对多钒酸盐-醇盐表面氢原子吸收的影响

期刊:Inorganic Chemistry
影响因子:4.7
doi:10.1021/acs.inorgchem.5c02940
Walls, M Rebecca A; Meyer, Rachel L; Brennessel, William W; Matson, Ellen M
发表日期：2025
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Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

荷兰新生儿酪氨酸血症1型筛查性能评估：除琥珀酰丙酮外，使用其他生物标志物改进筛查的建议

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11020035
Bouva, Marelle J; Kuypers, Allysa M; Kemper, Evelien A; Maase, Rose E; Bosch, Annet M; van Spronsen, Francjan J; Heijboer, Annemieke C; Heiner-Fokkema, M Rebecca; Heil, Sandra G; Boelen, Anita
发表日期：2025
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Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82

更正：Kuypers 等人，《全球新生儿酪氨酸血症 1 型筛查项目的评估》，《国际新生儿筛查杂志》，2024 年，第 10 卷，第 82 页。

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns11030072
Kuypers, Allysa M; Bouva, Marelle J; Loeber, J Gerard; Boelen, Anita; Dekkers, Eugenie; Petritis, Konstantinos; Pickens, C Austin; The Isns Representatives; van Spronsen, Francjan J; Heiner-Fokkema, M Rebecca
发表日期：2025
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Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral

现在下结论还为时过早吗？新生儿丙酸血症筛查的诊断准确性与及时转诊之间的平衡

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns12010001
Meijer, Nils W F; Huidekoper, Hidde H; Koop, Klaas; Fuchs, Sabine A; Heiner Fokkema, M Rebecca; Lubout, Charlotte M A; Haijer-Schreuder, Andrea B; Visser, Wouter F; Verschoof-Puite, Rendelien K; Dekkers, Eugènie; Bosch, Annet M; Maase, Rose E; de Sain-van der Velden, Monique G M
发表日期：2025
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The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside

膳食多糖摄入量与尿四糖苷排泄量的关系

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12801
Gross-Valle, Candelas; Jacobs, Tessa C; Dijck-Brouwer, Janneke D A; Lubberts, Janniek; Bakker, Barbara M; Bakker, Stephan J L; van der Veen, Yvonne; Schreuder, Andrea B; Derks, Terry G J; van der Krogt, Jennifer; Groen, Joost; Heiner-Fokkema, M Rebecca
发表日期：2025
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Overview of European Practices for Management of Tyrosinemia Type 1: Towards European Guidelines

欧洲酪氨酸血症1型管理实践概述：迈向欧洲指南

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70089
Kuypers, Allysa M; Das, Anibh M; Maiorana, Arianna; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J
发表日期：2025
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A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles

基于血浆酰基肉碱谱的机器学习模型能够准确识别糖原贮积症Ia型患者。

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03537-2
Groen, Joost; de Haan, Bas M; Overduin, Ruben J; Haijer-Schreuder, Andrea B; Derks, Terry Gj; Heiner-Fokkema, M Rebecca
发表日期：2025
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