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M

M. Rebecca Heiner-Fokkema

university medical center groningen
H指数:22
被引数:2,100

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Application of CLIR-Based Post-Analytical Tools to Dutch NBS Data Demonstrates Its Potential Impact on the Performance of CPT1, GA-1, IVA and MSUD Screening in a Disorder-Specific Way

基于CLIR的后期分析工具在荷兰NBS数据中的应用表明其对CPT1、GA-1、IVA和MSUD筛查性能的特定影响

International Journal of Neonatal Screening
IF4
2026-08-290
OA
Nils W. F. Meijer; Rose E. Maase; Patricia L. Hall; Wouter F. Visser; Klaas Koop; Annet M. Bosch; M. Rebecca Heiner-Fokkema; Monique G. M. de Sain-van der Velden
Vitamin B12 Supplementation: Is More Always Better?

维生素B12补充：更多总是更好吗？

Nutrients
IF5
2026-05-180
OAAI
Manuela Yepes-Calderón; Caecilia S. E. Doorenbos; Mariken E. Stegmann; Daan J. Touw; Hermie J. M. Harmsen; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen; Eva Corpeleijn; Stephan J. L. Bakker
Proteomics profiling of serum and liver in GSD ia and Ib patients: insights into complication mechanisms and circulation biomarkers

血清和肝脏的蛋白质组学分析在GSD ia和Ib患者中的应用：对并发症机制和循环生物标志物的见解

Journal of Translational Medicine
IF7.5
2026-02-200
OAAI
Ruiqi Xiao; Candelas Gross-Valle; Albert Gerding; Adam M. Thorne; Maaike H. Oosterveer; Terry G. J. Derks; Vincent E. de Meijer; M. Rebecca Heiner-Fokkema; Barbara M. Bakker; Justina C. Wolters
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral

为时过早？权衡丙酸血症新生儿筛查的诊断准确性与及时转诊。

International Journal of Neonatal Screening 2026, Vol. 12, Page 1
IF4
2025-12-250
OAAI
Nils W. F. Meijer; Hidde H. Huidekoper; Klaas Koop; Sabine A. Fuchs; M. Rebecca Heiner Fokkema; Charlotte M. A. Lubout; Andrea B. Haijer-Schreuder; Wouter F. Visser; Rendelien K. Verschoof-Puite; Eugènie Dekkers; Annet M. Bosch; Rose E. Maase; Monique G. M. de Sain-van der Velden
Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

评估荷兰新生儿筛查酪氨酸血症I型的性能：关于使用琥珀酰乙酯以外的额外生物标志物进行改进的建议

International Journal of Neonatal Screening 2025, Vol. 11, Page 35
IF4
2025-09-290
OAAI
Marelle J. Bouva; Allysa M. Kuypers; Evelien A. Kemper; Rose E. Maase; Annet M. Bosch; Francjan J. van Spronsen; Annemieke C. Heijboer; M. Rebecca Heiner-Fokkema; Sandra G. Heil; Anita Boelen
Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82

更正：Kuypers等人。全球新生儿筛查计划对酪氨酸血症I型的评估。Int. J. Neonatal Screen. 2024, 10, 82

International Journal of Neonatal Screening 2025, Vol. 11, Page 72
IF4
2025-09-010
OA
Allysa M. Kuypers; Marelle J. Bouva; J. Gerard Loeber; Anita Boelen; Eugenie Dekkers; Konstantinos Petritis; C. Austin Pickens; The ISNS Representatives; Francjan J. van Spronsen; M. Rebecca Heiner-Fokkema
Reply to Bouva et al. 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”

回复Bouva等人关于“Dijkstra等人，假阴性的酪氨酸血症I型新生儿筛查——需要重新评估使用琥珀酰乙酰酮的新生儿筛查。Int. J. Neonatal Screen. 2023, 9, 66”的评论

International Journal of Neonatal Screening 2024, Vol. 10, Page 66
IF4
2025-08-210
PRE
Allysa M. Dijkstra; Kimber Evers-van Vliet; M. Rebecca Heiner-Fokkema; Frank A. J. A. Bodewes; Dennis K. Bos; József Zsiros; Koen J. van Aerde; Klaas Koop; Francjan J. van Spronsen; Charlotte M. A. Lubout
Evaluation of the Performance of Newborn Screening for Tyrosinemia Type 1 in The Netherlands: Suggestions for Improvements Using Additional Biomarkers in Addition to Succinylacetone

评估荷兰新生儿筛查酪氨酸血症I型的性能：关于使用琥珀酰乙酰肼以外的其他生物标志物进行改进的建议

International Journal of Neonatal Screening 2025, Vol. 11, Page 35
IF4
2025-08-210
PRE
Marelle J. Bouva; Allysa M. Kuypers; Evelien A. Kemper; Rose E. Maase; Annet M. Bosch; Francjan J. van Spronsen; Annemieke C. Heijboer; M. Rebecca Heiner-Fokkema; Sandra G. Heil; Anita Boelen
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability

DNA优先的新生儿筛查：基于可治疗性的遗传代谢病筛查资格的系统评价

International Journal of Neonatal Screening 2025, Vol. 11, Page 1
IF4
2025-08-210
PRE
Abigail Veldman; Birgit Sikkema-Raddatz; Terry G. J. Derks; Clara D. M. van Karnebeek; M. B. Gea Kiewiet; Margaretha F. Mulder; Marcel R. Nelen; M. Estela Rubio-Gozalbo; Richard J. Sinke; Monique G. de Sain-van der Velden; Gepke Visser; Maaike C. de Vries; Dineke Westra; Monique Williams; Ron A. Wevers; M. Rebecca Heiner-Fokkema; Francjan J. van Spronsen
Agreement between the Amsterdam Neuropsychological Tasks and the Cambridge Neuropsychological Test Automated Battery in the assessment of PKU patients and healthy controls

阿姆斯特丹神经心理学任务与剑桥神经心理学测试自动化电池在苯丙酮尿症患者和健康对照组评估中的协议

MOLECULAR GENETICS AND METABOLISM
IF3.5
2025-06-010
OA
van Steenis, Ellis M.; Huijbregts, Stephan C. J.; Romani, Cristina; Schoemaker, Joell A.; van Vliet, Ninke; Kuypers, Allysa M.; Rubio-Gozalbo, M. Estela; Rennings, Alexander J. M.; de Vries, Maaike; Heiner-Fokkema, M. Rebecca; van Spronsen, Francjan J.
Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
IF4
2024-12-280
OAAI
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 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.

研究方向

暂未获取到该数据
F
Francjan J. van Spronsen
H 指数:53论文数:253被引数:1.0万
S
Stephan J. L. Bakker
H 指数:106论文数:1,399被引数:6.1万
T
Terry G. J. Derks
H 指数:33论文数:205被引数:3,645
I
Ido P. Kema
H 指数:67论文数:426被引数:1.5万
P
Pim de Blaauw
H 指数:12论文数:34被引数:435
A
Adrian Post
H 指数:21论文数:114被引数:1,749
A
António W. Gomes‐Neto
H 指数:24论文数:120被引数:1,799
D
Danique van Vliet
H 指数:17论文数:45被引数:701
A
Annet M. Bosch
H 指数:41论文数:189被引数:6,913
K
Klaas Koop
H 指数:12论文数:48被引数:1,434