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

Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review

核黄素在遗传性代谢疾病中的疗效:系统评价

Jaeger, Bregje; Stolwijk, Nina N; Aaldering, Femke; Ruys, Charlotte A; Smits, Marije; Wolf, Nicole I; Hollak, Carla E M; Bosch, Annet M

Medicine Development and Access for Rare Diseases: Can We Do Better?

罕见病药物研发与获取:我们能否做得更好?

Hollak, Carla E M; Rosenberg, Noa; Post, Colinda; Stolwijk, Nina; Manders, Evert; Schoenmakers, Daphne; Penninx, Bart; Reijnhout, Niels; Verdeyen, Kathelijn; Jonker, Roel; Bosch, Annet M; Langeveld, Mirjam; van der Wel, Vincent; de Visser, Saco; van den Berg, Sibren

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

Health and well-being of maturing adults with classic galactosemia

经典型半乳糖血症成年患者的健康和福祉

Garrett, Olivia S; Druss, Jared J; Vos, E Naomi; Fu, Yu-Ting Debbie; Lucia, Stephanie; Greenstein, Patricia E; Bauer, Anna; Sykut-Cegielska, Jolanta; Stepien, Karolina M; Arbuckle, Cameron; Grafakou, Olga; Meyer, Uta; Vanhoutvin, Nele; Pané, Adriana; Bosch, Annet M; Rubio-Gozalbo, Estela; Berry, Gerard T; Fridovich-Keil, Judith L

Effectiveness of Pyridoxal-5'-Phosphate in PNPO Deficiency: A Systematic Review

吡哆醛-5'-磷酸治疗PNPO缺乏症的疗效:系统评价

Stolwijk, Nina N; van Dussen, Laura; Reijnhout, Niels D; Brands, Marion M M G; Jaeger, Bregje; Clayton, Peter T; Hollak, Carla E M; Bosch, Annet M

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

Stolwijk, Nina N; Häberle, Johannes; Huidekoper, Hidde H; Wagenmakers, Margreet A E M; Hollak, Carla E M; Bosch, Annet M

Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases

筛查工具可提高内科医生和儿科医生对遗传性代谢疾病患者运动障碍的识别率

Hulshof, Ellen M; Lantinga, Hugo P; Alkemade, Gonnie; Bosch, Annet M; Brands, Marion M; Vliet, Danique Draaisma-van; Haijer-Schreuder, Andrea B; Hoytema van Konijnenburg, Eva M M; Janssen, Mirian C H; van der Klauw, Melanie M; Langeveld, Mirjam; Lubout, Charlotte M A; van Ockenburg, Sonja L; Oussoren, Esmeralda; Panis, Bianca; Sjouke, Barbara; de Vries, Maaike; Wagenmakers, Margreet A E M; Wijnen, Mark; Sival, Deborah A; Tijssen, Marina A J; de Koning, Tom J; Koens, Lisette H

Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands

以C5-OH为标志物评估新生儿疾病筛查:文献系统综述及荷兰17年C5-OH筛查评估

Aukes, Ryan; Albersen, Monique; Boelen, Anita; Kluijtmans, Leo A J; Visser, Wouter F; de Vries, Maaike C; Bosch, Annet M

Reducing False Positives in Newborn Screening: The Role of Perinatal Factors in the Dutch NBS Program

降低新生儿筛查假阳性率:围产期因素在荷兰新生儿筛查项目中的作用

Meijer, Nils W F; Maase, Rose E; Hall, Patricia L; Visser, Wouter F; Koop, Klaas; Bosch, Annet M; Heiner-Fokkema, M Rebecca; de Sain-van der Velden, Monique G M; The Clir-Nbs Group