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

Broad Vitamin B(6)-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

斑马鱼低磷酸血症（TNSALP 缺乏症）模型中广泛的维生素 B(6) 相关代谢紊乱

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26073270
Ciapaite Jolita, Albersen Monique, Savelberg Sanne M C, Bosma Marjolein, Meijer Nils W F, Tessadori Federico, Bakkers Jeroen P W, van Haaften Gijs, Jans Judith J, Verhoeven-Duif Nanda M
代谢
Fish
发表日期：2025
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Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

以C5-OH为标志物评估新生儿疾病筛查：文献系统综述及荷兰17年C5-OH筛查评估

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70088
Aukes, Ryan; Albersen, Monique; Boelen, Anita; Kluijtmans, Leo A J; Visser, Wouter F; de Vries, Maaike C; Bosch, Annet M
发表日期：2025
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Sex-specific newborn screening for X-linked adrenoleukodystrophy

针对X连锁肾上腺脑白质营养不良症的性别特异性新生儿筛查

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12571
Albersen, Monique; van der Beek, Samantha L; Dijkstra, Inge M E; Alders, Mariëlle; Barendsen, Rinse W; Bliek, Jet; Boelen, Anita; Ebberink, Merel S; Ferdinandusse, Sacha; Goorden, Susan M I; Heijboer, Annemieke C; Jansen, Mandy; Jaspers, Yorrick R J; Metgod, Ingrid; Salomons, Gajja S; Vaz, Frédéric M; Verschoof-Puite, Rendelien K; Visser, Wouter F; Dekkers, Eugènie; Engelen, Marc; Kemp, Stephan
神经科学
免疫/内分泌
发表日期：2023
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Correction to: Pyridox (am) ine 5'-phosphate oxidase deficiency induces seizures in Drosophila melanogaster

更正：吡哆醇（氨基）5'-磷酸氧化酶缺乏症可诱发果蝇癫痫

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddac058
Chi, Wanhao; Iyengar, Atulya S R; Albersen, Monique; Bosma, Marjolein; Verhoeven-Duif, Nanda M; Wu, Chun-Fang; Zhuang, Xiaoxi
Drosophila
癫痫
神经科学
发表日期：2022
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Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers

一名患有急性髓系白血病的11岁女孩出现高磷血症：解答

期刊:Pediatric Nephrology
影响因子:2.6
doi:10.1007/s00467-018-4101-5
Albersen, Monique; Bökenkamp, Arend; Schotman, Hans; Smetsers, Stephanie
白血病
发表日期：2019
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The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma

碱性磷酸酶（ALPL）基因座与脑脊液和血浆中维生素B6水平相关

期刊:Genes
影响因子:2.8
doi:10.3390/genes10010008
Loohuis, Loes M; Albersen, Monique; de Jong, Simone; Wu, Timothy; Luykx, Jurjen J; Jans, Judith J M; Verhoeven-Duif, Nanda M; Ophoff, Roel A
神经科学
发表日期：2018
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Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations

赖氨酸限制饮食作为吡哆醇依赖性癫痫的辅助治疗：PDE联盟共识建议

期刊:JIMD Reports
影响因子:1.8
doi:10.1007/8904_2014_296
van Karnebeek, Clara D M; Stockler-Ipsiroglu, Sylvia; Jaggumantri, Sravan; Assmann, Birgit; Baxter, Peter; Buhas, Daniela; Bok, Levinus A; Cheng, Barbara; Coughlin, Curtis R 2nd; Das, Anibh M; Giezen, Alette; Al-Hertani, Wahla; Ho, Gloria; Meyer, Uta; Mills, Philippa; Plecko, Barbara; Struys, Eduard; Ueda, Keiko; Albersen, Monique; Verhoeven, Nanda; Gospe, Sidney M Jr; Gallagher, Renata C; Van Hove, Johan K L; Hartmann, Hans
癫痫
神经科学
发表日期：2014
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Whole body composition analysis by the BodPod air-displacement plethysmography method in children with phenylketonuria shows a higher body fat percentage

采用BodPod空气置换体积描记法对苯丙酮尿症患儿进行全身成分分析显示，其体脂百分比较高。

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-010-9149-8
Albersen, Monique; Bonthuis, Marjolein; de Roos, Nicole M; van den Hurk, Dorine A M; Carbasius Weber, Ems; Hendriks, Margriet M W B; de Sain-van der Velden, Monique G M; de Koning, Tom J; Visser, Gepke
发表日期：2010
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