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

Exploring Workplace Learning in Surgical Practice: How Mindset and Motivation Are Associated With Self-Regulated Learning Behaviors

探索外科实践中的工作场所学习:心态和动机如何与自我调节学习行为相关联

Dabekaussen, Kirsten Felicia Ann-Sophie Aimée; Veenstra, Gepke L; Vollmann, Manja; Lombarts, Kiki M J M H; Jaarsma, Debbie A D C; Heineman, Erik; Scheepers, Renée A

Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation Disorders

长链脂肪酸氧化障碍青少年患者的肌病症状和运动耐力

Schwantje, Marit; van Brussel, Marco; Takken, Tim; de Sain-van der Velden, Monique G M; Langeveld, Mirjam; Visser, Gepke; Fuchs, Sabine A

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

基于DNA的新生儿筛查:基于可治疗性的遗传代谢疾病筛查资格系统评估

Veldman, Abigail; Sikkema-Raddatz, Birgit; Derks, Terry G J; van Karnebeek, Clara D M; Kiewiet, M B Gea; Mulder, Margaretha F; Nelen, Marcel R; Rubio-Gozalbo, M Estela; Sinke, Richard J; de Sain-van der Velden, Monique G; Visser, Gepke; de Vries, Maaike C; Westra, Dineke; Williams, Monique; Wevers, Ron A; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan J

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

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

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

A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their child

一项关于新生儿筛查中被诊断出患有原发性肉碱缺乏症的母亲们的观点的定性研究

van den Heuvel, Lieke M; Kater-Kuipers, Adriana; van Dijk, Tessa; Crefcoeur, Loek L; Visser, Gepke; Langeveld, Mirjam; Henneman, Lidewij

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

Perceived Burden Due to Registrations for Quality Monitoring and Improvement in Hospitals: A Mixed Methods Study

医院质量监测与改进注册带来的感知负担:一项混合方法研究

Zegers, Marieke; Veenstra, Gepke L; Gerritsen, Gerard; Verhage, Rutger; van der Hoeven, Hans J G; Welker, Gera A

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

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