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

Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data

利用新生儿筛查分析物数据直接预测VLCADD的严重程度

Schwantje, Marit; Maase, Rose E; Dekkers, Eugenie; Ferdinandusse, Sacha; Vaz, Frédéric M; Hörster, Friederieke; Mütze, Ulrike; Grünert, Sarah C; Visser, Gepke; Velden, Monique G M De Sain-van der; Fuchs, Sabine A

Twenty-one-year report from the Danish Health Authority Expert Advisory Panel for review of treatment of 10 000 cancer patients

丹麦卫生局专家咨询小组对10000名癌症患者的治疗情况进行了为期21年的审查,并提交了一份报告。

Ladekarl, Morten; Mørk, Mette Louise; Albertsen, Emma Skotte; Nielsen, Dorte; Lassen, Ulrik; Mau-Sørensen, Morten; Nielsen, Claus Malta; Jakobsen, Anders; von der Maase, Hans

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

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

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

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

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

Bouva, Marelle J; Maase, Rose E; van Elburg, Ruurd M

Comment on Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20

对 Jones 等人发表于《国际新生儿筛查杂志》(Int. J. Neonatal Screen. 2022, 8, 20)的文章“一种新型算法在欧洲新生儿遗传代谢疾病筛查中的应用”进行评论。

Maase, Rose; Jansen, Marleen E; Heijnen, Marie-Louise; Dekkers, Eugenie

Important Lessons on Long-Term Stability of Amino Acids in Stored Dried Blood Spots

关于储存的干血斑中氨基酸长期稳定性的重要启示

Dijkstra, Allysa M; de Blaauw, Pim; van Rijt, Willemijn J; Renting, Hanneke; Maatman, Ronald G H J; van Spronsen, Francjan J; Maase, Rose E; Schielen, Peter C J I; Derks, Terry G J; Heiner-Fokkema, M Rebecca

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

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

Assessment of carnitine excretion and its ratio to plasma free carnitine as a biomarker for primary carnitine deficiency in newborns

评估肉碱排泄量及其与血浆游离肉碱的比值作为新生儿原发性肉碱缺乏症的生物标志物

Crefcoeur, Loek L; Heiner-Fokkema, M Rebecca; Maase, Rose E; Visser, Gepke; de Sain-van der Velden, Monique G M

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands

荷兰引入新生儿筛查后发现的线粒体三功能蛋白缺乏症患者的遗传、生化和临床谱

Schwantje, Marit; Fuchs, Sabine A; de Boer, Lonneke; Bosch, Annet M; Cuppen, Inge; Dekkers, Eugenie; Derks, Terry G J; Ferdinandusse, Sacha; Ijlst, Lodewijk; Houtkooper, Riekelt H; Maase, Rose; van der Pol, W Ludo; de Vries, Maaike C; Verschoof-Puite, Rendelien K; Wanders, Ronald J A; Williams, Monique; Wijburg, Frits; Visser, Gepke