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

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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21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation

在荷兰，21-脱氧皮质醇作为先天性肾上腺皮质增生症新生儿筛查的二级检测指标：两年评估

期刊:Archives of Disease in Childhood
影响因子:
doi:10.1136/archdischild-2025-328929
Olthof, Anouk; Bouva, Marelle J; Claahsen-van der Grinten, Hedi L; Westra, Dineke; Dekkers, Eugènie; Heijboer, Annemieke C; Hannema, Sabine E; Boelen, Anita
免疫/内分泌
发表日期：2025
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Comment on Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66

对 Dijkstra 等人的文章《酪氨酸血症 1 型新生儿筛查假阴性——需要重新评估琥珀酰丙酮新生儿筛查》（Int. J. Neonatal Screen. 2023, 9, 66）的评论

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns10040065
Bouva, Marelle J; Maase, Rose E; van Elburg, Ruurd M
发表日期：2024
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Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide

全球新生儿酪氨酸血症1型筛查项目评估

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns10040082
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：2024
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Optimizing the Dutch newborn screening for congenital hypothyroidism by incorporating amino acids and acylcarnitines in a machine learning-based model

通过在基于机器学习的模型中纳入氨基酸和酰基肉碱，优化荷兰新生儿先天性甲状腺功能减退症筛查。

期刊:European Thyroid Journal
影响因子:4.3
doi:10.1530/ETJ-23-0141
Jansen, Heleen I; van Haeringen, Marije; Bouva, Marelle J; den Elzen, Wendy P J; Bruinstroop, Eveline; van der Ploeg, Catharina P B; van Trotsenburg, A S Paul; Zwaveling-Soonawala, Nitash; Heijboer, Annemieke C; Bosch, Annet M; de Jonge, Robert; Hoogendoorn, Mark; Boelen, Anita
甲状腺功能减退
免疫/内分泌
发表日期：2023
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Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

新生儿脑腱黄瘤病筛查：对 20,000 名新生儿进行流动注射和 UPLC-MS/MS 分析的回顾性生物标志物研究

期刊:Clinica Chimica Acta
影响因子:3.2
doi:10.1016/j.cca.2022.12.011
Frédéric M Vaz, Youssra Jamal, Rob Barto, Michael H Gelb, Andrea E DeBarber, Ron A Wevers, Marcel R Nelen, Aad Verrips, Albert H Bootsma, Marelle J Bouva, Nick Kleise, Walter van der Zee, Tao He, Gajja S Salomons, Hidde H Huidekoper1
多发性硬化症
神经科学
发表日期：2023
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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

更正：荷兰新生儿肾上腺脑白质营养不良筛查（SCAN 研究）：X 因素

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2021.631655
Barendsen, Rinse W; Dijkstra, Inge M E; Visser, Wouter F; Alders, Mariëlle; Bliek, Jet; Boelen, Anita; Bouva, Marelle J; van der Crabben, Saskia N; Elsinghorst, Ellen; van Gorp, Ankie G M; Heijboer, Annemieke C; Jansen, Mandy; Jaspers, Yorrick R J; van Lenthe, Henk; Metgod, Ingrid; Mooij, Christiaan F; van der Sluijs, Elise H C; van Trotsenburg, A S Paul; Verschoof-Puite, Rendelien K; Vaz, Frédéric M; Waterham, Hans R; Wijburg, Frits A; Engelen, Marc; Dekkers, Eugènie; Kemp, Stephan
神经科学
免疫/内分泌
发表日期：2021
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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

荷兰新生儿肾上腺脑白质营养不良筛查（SCAN 研究）：关键因素

期刊:Frontiers in Cell and Developmental Biology
影响因子:4.3
doi:10.3389/fcell.2020.00499
Barendsen, Rinse W; Dijkstra, Inge M E; Visser, Wouter F; Alders, Mariëlle; Bliek, Jet; Boelen, Anita; Bouva, Marelle J; van der Crabben, Saskia N; Elsinghorst, Ellen; van Gorp, Ankie G M; Heijboer, Annemieke C; Jansen, Mandy; Jaspers, Yorrick R J; van Lenthe, Henk; Metgod, Ingrid; Mooij, Christiaan F; van der Sluijs, Elise H C; van Trotsenburg, A S Paul; Verschoof-Puite, Rendelien K; Vaz, Frédéric M; Waterham, Hans R; Wijburg, Frits A; Engelen, Marc; Dekkers, Eugènie; Kemp, Stephan
神经科学
免疫/内分泌
发表日期：2020
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Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

对荷兰11年来新生儿枫糖尿症筛查的评估及文献系统综述：优化策略

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12124
Stroek, Kevin; Boelen, Anita; Bouva, Marelle J; De Sain-van der Velden, Monique; Schielen, Peter C J I; Maase, Rose; Engel, Henk; Jakobs, Bernadette; Kluijtmans, Leo A J; Mulder, Margot F; Rubio-Gozalbo, M E; van Spronsen, Francjan J; Visser, Gepke; de Vries, Maaike C; Williams, Monique; Heijboer, Annemieke C; Kemper, Evelien A; Bosch, Annet M
发表日期：2020
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