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

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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Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals

尿素循环障碍治疗产品可及性面临的挑战：一项针对欧洲医疗保健专业人员的调查

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.12815
Stolwijk, Nina N; Häberle, Johannes; Huidekoper, Hidde H; Wagenmakers, Margreet A E M; Hollak, Carla E M; Bosch, Annet M
发表日期：2025
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Quality of life in children with erythropoietic protoporphyria: a case-control study

红细胞生成性原卟啉病患儿的生活质量：一项病例对照研究

期刊:Journal of Dermatology
影响因子:2.7
doi:10.1111/1346-8138.17348
Kluijver, Louisa G; Wensink, Debby; Wagenmakers, Margreet A E M; Huidekoper, Hidde H; Witters, Peter; Rymen, Daisy; Langendonk, Janneke G
卟啉病
细胞生物学
红细胞
代谢
发表日期：2024
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Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions

居家输注阿糖苷酶α可安全用于治疗晚发型庞贝病成人患者：18380例输注的经验教训

期刊:BioDrugs
影响因子:6.9
doi:10.1007/s40259-023-00609-2
Ditters, Imke A M; van Kooten, Harmke A; van der Beek, Nadine A M E; Hardon, Jacqueline F; Ismailova, Gamida; Brusse, Esther; Kruijshaar, Michelle E; van der Ploeg, Ans T; van den Hout, Johanna M P; Huidekoper, Hidde H
发表日期：2023
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A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

一项德尔菲调查研究，旨在制定关于遗传性代谢疾病可治疗性的声明，以决定新生儿筛查的资格

期刊:International Journal of Neonatal Screening
影响因子:4
doi:10.3390/ijns9040056
Veldman, Abigail; Kiewiet, M B Gea; Westra, Dineke; Bosch, Annet M; Brands, Marion M G; de Coo, René I F M; Derks, Terry G J; Fuchs, Sabine A; van den Hout, Johanna M P; Huidekoper, Hidde H; Kluijtmans, Leo A J; Koop, Klaas; Lubout, Charlotte M A; Mulder, Margaretha F; Panis, Bianca; Rubio-Gozalbo, M Estela; de Sain-van der Velden, Monique G; Schaefers, Jaqueline; Schreuder, Andrea B; Visser, Gepke; Wevers, Ron A; Wijburg, Frits A; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J
代谢
发表日期：2023
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Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study

针对庞贝病患儿和成人的居家酶替代疗法：一项前瞻性研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-023-02715-4
Ditters, Imke A M; van der Beek, Nadine A M E; Brusse, Esther; van der Ploeg, Ans T; van den Hout, Johanna M P; Huidekoper, Hidde H
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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Area-Selective Atomic Layer Deposition of ZnO on Si\SiO(2) Modified with Tris(dimethylamino)methylsilane

在三(二甲氨基)甲基硅烷改性的Si/SiO(2)上进行ZnO的区域选择性原子层沉积

期刊:Materials
影响因子:3.2
doi:10.3390/ma16134688
Moeini, Behnam; Avval, Tahereh G; Brongersma, Hidde H; Průša, Stanislav; Bábík, Pavel; Vaníčková, Elena; Strohmeier, Brian R; Bell, David S; Eggett, Dennis; George, Steven M; Linford, Matthew R
发表日期：2023
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Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

巨叶性贫血、婴儿白血病和免疫缺陷是由DHFR基因中一种新的纯合突变引起的。

期刊:Blood Advances
影响因子:7.1
doi:10.1182/bloodadvances.2022007233
Kuijpers, Taco W; de Vries, Andrica C H; van Leeuwen, Ester M; Ermens, A Ton A M; de Pont, Saskia; Smith, Desirée E C; Wamelink, Mirjam M C; Mensenkamp, Arjen R; Nelen, Marcel R; Lango Allen, Hana; Pals, Steven T; Beverloo, Berna H B; Huidekoper, Hidde H; Wagner, Anja
代谢
贫血
白血病
免疫/内分泌
发表日期：2022
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Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

表现为发作性肌病的热敏性线粒体三功能蛋白缺乏症

期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1002/jimd.12503
Marit Schwantje, Merel S Ebberink, Mirjam Doolaard, Jos P N Ruiter, Sabine A Fuchs, Niklas Darin, Carola Hedberg-Oldfors, Luc Régal, Laura Donker Kaat, Hidde H Huidekoper, Simon Olpin, Duncan Cole, Stuart J Moat, Gepke Visser, Sacha Ferdinandusse
细胞生物学
发表日期：2022
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