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

Rethinking Newborn Screening: A Case of GALM Deficiency

重新思考新生儿筛查:GALM 缺陷病例

van Konijnenburg, Eva M M Hoytema; Radenkovic, Silvia; Koop, Klaas; Prinsen, Hubertus C M T; de Sain-van der Velden, Monique

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

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

Lymphatic Obstruction and Edema in Neonate due to Left Subclavian Central Venous Catheter

新生儿因左锁骨下中心静脉导管引起的淋巴管阻塞和水肿

Koop, Klaas; de Jel, Dominique Valérie Clarence; Nijman, Joppe; Peels, Barbara; Peters, Ellis

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

KCNB2单等位基因变异会导致由通道失活改变引起的神经发育综合征。

Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenço, Charles Marques; Stoler, Joan M; Louie, Raymond J; Clarkson, Lola K; Lichty, Angie; Koboldt, Daniel C; Reshmi, Shalini C; Sisodiya, Sanjay M; Hoytema van Konijnenburg, Eva M M; Koop, Klaas; van Hasselt, Peter M; Démurger, Florence; Dubourg, Christèle; Sullivan, Bonnie R; Hughes, Susan S; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M

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 等人的评论:“Dijkstra 等人,《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》,《国际新生儿筛查杂志》,2023 年,第 9 卷,第 66 页”。

Dijkstra, Allysa M; Evers-van Vliet, Kimber; Heiner-Fokkema, M Rebecca; Bodewes, Frank A J A; Bos, Dennis K; Zsiros, József; van Aerde, Koen J; Koop, Klaas; van Spronsen, Francjan J; Lubout, Charlotte M A

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

A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone

酪氨酸血症1型新生儿筛查出现假阴性结果——需要重新评估琥珀酰丙酮新生儿筛查

Dijkstra, Allysa M; Evers-van Vliet, Kimber; Heiner-Fokkema, M Rebecca; Bodewes, Frank A J A; Bos, Dennis K; Zsiros, József; van Aerde, Koen J; Koop, Klaas; van Spronsen, Francjan J; Lubout, Charlotte M A

Macrocephaly and developmental delay caused by missense variants in RAB5C

RAB5C基因错义变异导致巨头畸形和发育迟缓

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

利用成纤维细胞的生化研究来解读ABCD1基因中意义不明的变异

van de Stadt, Stephanie I W; Mooyer, Petra A W; Dijkstra, Inge M E; Dekker, Conny J M; Vats, Divya; Vera, Moin; Ruzhnikov, Maura R Z; van Haren, Keith; Tang, Nelson; Koop, Klaas; Willemsen, Michel A; Hui, Joannie; Vaz, Frédéric M; Ebberink, Merel S; Engelen, Marc; Kemp, Stephan; Ferdinandusse, Sacha