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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The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)

欧洲代谢疾病参考网络（MetabERN）庞贝病（酸性麦芽糖酶缺乏症，II型糖原贮积症）临床路径建议

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03373-w
Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose'; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A M E; Del Toro Riera, Mireja; Germain, Dominique P; Huidekoper, Hidde; van den Hout, Johanna M P; van der Ploeg, Ans T
代谢
发表日期：2024
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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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5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings

5,10-亚甲基四氢叶酸合成酶缺乏症：荷兰两名兄妹患有极其罕见的叶酸代谢缺陷

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.12409
Liepina, Lelde; Smith, Desiree E C; Huidekoper, Hidde; Zeidler, Shimriet; Wamelink, Mirjam; de Wit, Marie-Claire; Wilke, Martina; Ruijter, George; Bierau, Jörgen; Blom, Henk J
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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Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review

抗rhGAA抗体是成人晚发型庞贝病治疗结果的决定因素吗？一项系统评价

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom13091414
Ditters, Imke A M; van Kooten, Harmke A; van der Beek, Nadine A M E; van der Ploeg, Ans T; Huidekoper, Hidde H; van den Hout, Johanna M P
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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Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

新生儿原发性肉碱缺乏症筛查：哪些人将受益？——一项回顾性队列研究

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109206
Crefcoeur, Loek; Ferdinandusse, Sacha; van der Crabben, Saskia N; Dekkers, Eugènie; Fuchs, Sabine A; Huidekoper, Hidde; Janssen, Mirian; Langendonk, Janneke; Maase, Rose; de Sain, Monique; Rubio, Estela; van Spronsen, Francjan J; Vaz, Frédéric Maxime; Verschoof, Rendelien; de Vries, Maaike; Wijburg, Frits; Visser, Gepke; Langeveld, Mirjam
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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