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

Brain Age in Adult Patients With Early-Treated Phenylketonuria

早期治疗的苯丙酮尿症成年患者的脑龄

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70158
Winiger, Laura; Muri, Raphaela; Kaufmann, Tobias; Hochuli, Michel; Vardy, Emma; Radojewski, Piotr; Pospieszny, Katarzyna; Trepp, Roman; Everts, Regula
神经科学
发表日期：2026
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Reversible white matter changes following a 4-week high phenylalanine exposure in adults with phenylketonuria

苯丙酮尿症成人患者在接受4周高浓度苯丙氨酸暴露后出现可逆性白质改变

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12823
Muri, Raphaela; Reed, Murray Bruce; Maissen-Abgottspon, Stephanie; Kreis, Roland; Hochuli, Michel; Lanzenberger, Rupert; Trepp, Roman; Everts, Regula
发表日期：2025
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The influence of menstrual cycle on metabolic control and diet in patients with phenylketonuria

月经周期对苯丙酮尿症患者代谢控制和饮食的影响

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03890-2
Horka, Laura; Landolt, Kristin; Erlic, Zoran; Rimann, Nicole; Cremonesi, Alessio; Hochuli, Michel; Beuschlein, Felix
代谢
发表日期：2025
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Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria

苯丙酮尿症成人高浓度苯丙氨酸暴露后短暂的脑结构变化

期刊:Brain
影响因子:11.7
doi:10.1093/brain/awae139
Muri, Raphaela; Rummel, Christian; McKinley, Richard; Rebsamen, Michael; Maissen-Abgottspon, Stephanie; Kreis, Roland; Radojewski, Piotr; Pospieszny, Katarzyna; Hochuli, Michel; Wiest, Roland; Trepp, Roman; Everts, Regula
神经科学
发表日期：2024
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Cerebral blood flow and white matter alterations in adults with phenylketonuria

苯丙酮尿症成人患者的脑血流和白质改变

期刊:Neuroimage-Clinical
影响因子:3.6
doi:10.1016/j.nicl.2023.103550
Steiner, Leonie; Muri, Raphaela; Wijesinghe, Dilmini; Jann, Kay; Maissen-Abgottspon, Stephanie; Radojewski, Piotr; Pospieszny, Katarzyna; Kreis, Roland; Kiefer, Claus; Hochuli, Michel; Trepp, Roman; Everts, Regula
神经科学
发表日期：2024
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Effect of a four-week oral Phe administration on neural activation and cerebral blood flow in adults with early-treated phenylketonuria

为期四周的口服苯丙氨酸治疗对早期治疗的苯丙酮尿症成年患者的神经激活和脑血流量的影响

期刊:Neuroimage-Clinical
影响因子:3.6
doi:10.1016/j.nicl.2024.103654
Maissen-Abgottspon, Stephanie; Steiner, Leonie; Muri, Raphaela; Wijesinghe, Dilmini; Jann, Kay; Morishima, Yosuke; Hochuli, Michel; Kreis, Roland; Trepp, Roman; Everts, Regula
神经科学
发表日期：2024
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Compromised white matter is related to lower cognitive performance in adults with phenylketonuria

苯丙酮尿症成人患者的白质受损与认知能力下降有关。

期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcad155
Muri, Raphaela; Maissen-Abgottspon, Stephanie; Reed, Murray Bruce; Kreis, Roland; Hoefemann, Maike; Radojewski, Piotr; Pospieszny, Katarzyna; Hochuli, Michel; Wiest, Roland; Lanzenberger, Rupert; Trepp, Roman; Everts, Regula
神经科学
发表日期：2023
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Health-related quality of life in a european sample of adults with early-treated classical PKU

欧洲早期治疗的经典型苯丙酮尿症成年患者样本的健康相关生活质量

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02917-w
Maissen-Abgottspon, Stephanie; Muri, Raphaela; Hochuli, Michel; Reismann, Péter; Barta, András Gellért; Alptekin, Ismail Mucahit; Hermida-Ameijeiras, Álvaro; Burlina, Alessandro P; Burlina, Alberto B; Cazzorla, Chiara; Carretta, Jessica; Trepp, Roman; Everts, Regula
发表日期：2023
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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

非靶向血浆代谢组学分析揭示了I型糖原贮积症中广泛的代谢紊乱。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12451
Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel
代谢
发表日期：2022
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Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria

苯丙酮尿症成人皮质厚度及其与认知功能和代谢控制的关系

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12561
Muri, Raphaela; Maissen-Abgottspon, Stephanie; Rummel, Christian; Rebsamen, Michael; Wiest, Roland; Hochuli, Michel; Jansma, Bernadette M; Trepp, Roman; Everts, Regula
神经科学
代谢
发表日期：2022
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