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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Untargeted Proteomics Profiling of Liver and Plasma in Fed and Fasted Liver-Specific Glycogen Storage Disease Type Ia (GSD Ia) Mice: Toward Potential Protein Biomarkers

对喂食和禁食状态下肝脏特异性糖原贮积症 Ia 型 (GSD Ia) 小鼠的肝脏和血浆进行非靶向蛋白质组学分析：探索潜在的蛋白质生物标志物

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70171
Xiao, Ruiqi; de Vries, Hilda I; Gross-Valle, Candelas; Bleeker, Aycha; Derks, Terry G J; Bakker, Barbara M; Oosterveer, Maaike H; Wolters, Justina C
发表日期：2026
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PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

PHKA1相关磷酸化酶激酶缺乏症：一种单基因疾病，可导致运动不耐受和肌痛

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00527-y
Koch, Rebecca L; Fares, Angie H; Cocanougher, Benjamin T; Lim, Jamie; Haijer-Schreuder, Andrea B; Derks, Terry G J; Grünert, Sarah C; Sharma, Reena; Jones, Karra A; Kishnani, Priya S
信号转导
磷酸化
发表日期：2025
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Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

作者更正：PHKA1相关磷酸化酶激酶缺乏症：一种单基因运动不耐受和肌痛性疾病

期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-025-00544-x
Koch, Rebecca L; Fares, Angie H; Cocanougher, Benjamin T; Lim, Jamie; Haijer-Schreuder, Andrea B; Derks, Terry G J; Grünert, Sarah C; Sharma, Reena; Jones, Karra A; Kishnani, Priya S
信号转导
磷酸化
发表日期：2025
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Multiomics approach provides insight into altered choline metabolism and liver injury in patients with glycogen storage disease type Ia

多组学方法可深入了解Ia型糖原贮积症患者的胆碱代谢改变和肝损伤。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-06272-7
Pirozzi, Francesca; Amiri, Ramin; Luni, Camilla; Rossi, Alessandro; Melis, Daniela; Fedele, Roberta; Rosano, Carmen; Strisciuglio, Pietro; Oosterveer, Maaike H; Derks, Terry G J; Parenti, Giancarlo; Caterino, Marianna; Ruoppolo, Margherita
肝损伤
毒理研究
代谢
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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State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases

关于肝糖原贮积症中持续血糖监测的最新进展和医疗保健提供者、患者和护理人员的共识声明

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70040
Derks, Terry G J; Overduin, Ruben J; Grünert, Sarah C; Rossi, Alessandro
发表日期：2025
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iPSC-Derived Liver Organoids as a Tool to Study Medium Chain Acyl-CoA Dehydrogenase Deficiency.

利用 iPSC 衍生的肝脏类器官研究中链酰基辅酶 A 脱氢酶缺乏症

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70028
Kiyuna Ligia A, Horcas-Nieto José M, Odendaal Christoff, Langelaar-Makkinje Miriam, Gerding Albert, Broekhuis Mathilde J C, Bonanini Flavio, Singh Madhulika, Kurek Dorota, Harms Amy C, Hankemeier Thomas, Foijer Floris, Derks Terry G J, Bakker Barbara M
免疫/内分泌
发表日期：2025
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Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

肝糖原贮积症的内分泌机制：病理生理学及其对治疗的意义

期刊:Reviews in Endocrine & Metabolic Disorders
影响因子:8
doi:10.1007/s11154-024-09880-2
Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G J
发表日期：2024
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Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia Estimated by Oral D-[6,6-2H2]-glucose

口服D-[6,6-2H2]-葡萄糖法估算Ia型糖原贮积症患者的内源性葡萄糖生成

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgad537
Rossi, Alessandro; Oosterveer, Maaike H; van Dijk, Theo H; Bleeker, Aycha; Koehorst, Martijn; Weinstein, David A; Bakker, Barbara M; Derks, Terry G J
发表日期：2024
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