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

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate

肝细胞癌:吡哆醛磷酸治疗患者的严重并发症

Brands, Marion M; de Puyraimond, Chloé; Gospe, Sidney M Jr; Schiff, Manuel M; Jaeger, Bregje; Koot, Bart G; Raphael, Martine F; Lubout, Charlotte M; Soto, Bertrand; Delanne, Julian; Imbard, Apolline; Zempel, John; Kraal, Kathelijne C; Scheenstra, René; Clayton, Peter T

Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study of the General Practitioner's Perspective

荷兰新生儿代谢筛查异常结果的沟通:全科医生的视角下的定性探索性研究

Haitjema, Sietske; Lubout, Charlotte M A; Zijlstra, Justine H M; Verschoof-Puite, Rendelien K; van Spronsen, Francjan J

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

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

Utility of ABI and API Versus CTA to Identify Surgically Significant Arterial Injury After Lower Extremity Trauma in a LMIC

在低收入和中等收入国家,踝肱指数(ABI)和动脉搏动指数(API)与冠状动脉造影(CTA)在识别下肢创伤后需手术治疗的动脉损伤方面的效用比较。

Robbertze, Rubinette; Lubout, Megan; Prince, Daniel Nicholas; Joubert, Isabella Margaretha; Moeng, Maeyane S

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

Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

更正:生酮饮食作为非酮症高甘氨酸血症的甘氨酸降低疗法及其对脑甘氨酸水平的影响

Shelkowitz, Emily; Saneto, Russell P; Al-Hertani, Walla; Lubout, Charlotte M A; Stence, Nicholas V; Brown, Mark S; Long, Patrick; Walleigh, Diana; Nelson, Julie A; Perez, Francisco E; Shaw, Dennis W W; Michl, Emma J; Van Hove, Johan L K

Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels

生酮饮食作为一种降低甘氨酸水平的疗法,用于治疗非酮症性高甘氨酸血症及其对脑甘氨酸水平的影响

Shelkowitz, Emily; Saneto, Russell P; Al-Hertani, Walla; Lubout, Charlotte M A; Stence, Nicholas V; Brown, Mark S; Long, Patrick; Walleigh, Diana; Nelson, Julie A; Perez, Francisco E; Shaw, Dennis W W; Michl, Emma J; Van Hove, Johan L K