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D

Dirk J. Lefeber

Radboud University Medical Center
H指数:54
被引数:1.0万

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Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry

通过质谱法进行全面的N-糖链谱分析诊断II型先天性糖基化障碍亚型

International Journal of Molecular Sciences
IF4.9
2026-07-230
OA
Alan R. Mól; Nilza do C. Fontes; Savana C. L. Santos; Cynthia Costa e Silva; Gerson da S. Carvalho; Bruno J. C. B. Lima; Walquíria D. de Mello; Daniel R. de Carvalho; Eder A. Barbosa; Dirk J. Lefeber; Juliana F. Mazzeu; Jaime M. Brum; Guilherme D. Brand
Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

氨基己二酸半醛合成酶，戊二酸尿症I型的底物减少疗法潜在靶点

Scientific Reports
IF3.9
2026-03-310
OA
Saad, Celine; Jung-Klawitter, Sabine; Dimitrov, Bianca; Aguilar-Pimentel, Juan Antonio; Becker, Lore; da Silva-Buttkus, Patricia; Dragano, Nathalia R. V.; Garrett, Lillian; Holter, Sabine M.; Rathkolb, Birgit; Sanz-Moreno, Adrian; Spielmann, Nadine; Fuchs, Helmut; Gailus-Durner, Valerie; Schaaf, Christian P.; la Marca, Giancarlo; Damiano, Roberta; Lefeber, Dirk J.; Engelke, Udo; de Angelis, Martin Hrabe; Houten, Sander M.; Kolker, Stefan
Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

靶向AASS可缓解神经毒性并改善吡哆醇依赖性癫痫星形胶质细胞模型的线粒体功能

Molecular Therapy Nucleic Acids
IF6.1
2025-09-300
OAAI
Imke M.E. Schuurmans; Udo Engelke; Muna Abedrabbo; Sofía Puvogel; Rachel Mijdam; Gijs-Jan Scholten; Sara B. van Katwijk; Astrid Oudakker; Hilal H. Al-Shekaili; Dirk J. Lefeber; Blair R. Leavitt; Clara D.M. van Karnebeek; Nael Nadif Kasri; Alejandro Garanto
Glycoproteomics analysis of complement factor H and its complement-regulatory function during Streptococcus pneumoniae-associated hemolytic uremic syndrome

肺炎链球菌相关溶血尿毒综合征中补体因子H的糖蛋白质组学分析及其补体调节功能

Frontiers in Immunology
IF5.9
2025-08-210
OA
Laura M. Baas; Kioa L. Wijnsma; Fokje Zijlstra; Nicole C. A. J. van de Kar; Lieke ter Steeg; Antonia H. M. Bouts; Marloes A. H. M. Michels; Jeroen D. Langereis; Dirk Lefeber; Hans J. C. T. Wessels†; Lambertus P. van den Heuvel†
Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

基于成像流式细胞术的细胞筛选阐明了具有Uncertain Significance Variants个体的病理生理学。

GENOME MEDICINE
IF11.2
2025-02-071
OA
Muffels, Irena Josephina Johanna; Waterham, Hans R.; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J.; van der Vinne, Celine; Roifman, Chaim M.; Gassen, Koen L. I.; Rehmann, Holger; Van Haaften-Visser, Desiree Y.; Nieuwenhuis, Edward S. S.; Jackson, Stephen P.; Fuchs, Sabine A.; Wijk, Femke; van Hasselt, Peter
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

由于ALDH7A1缺乏引起的吡哆醇依赖性癫痫的新疗法：小鼠中上游酶抑制的首个原理验证

BRAIN COMMUNICATIONS
IF4.5
2025-01-012
OAAI
van Karnebeek, Clara D. M.; Gailus-Durner, Valerie; Engelke, Udo F.; Seisenberger, Claudia; Marschall, Susan; Dragano, Nathalia R., V; da Silva-Buttkus, Patricia; Leuchtenberger, Stefanie; Fuchs, Helmut; Hrabe de Angelis, Martin; Wevers, Ron A.; Coughlin, Curtis R.; Lefeber, Dirk J.
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

基因组和RNA测序对于揭示与缺陷ATP6AP1 mRNA加工相关的隐性内含子变体至关重要

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-07-012
PRE
Morales-Romero, Blai; Munoz-Pujol, Gerard; Artuch, Rafael; Garcia-Cazorla, Angels; O'Callaghan, Mar; Sykut-Cegielska, Jolanta; Campistol, Jaume; Moreno-Lozano, Pedro Juan; Oud, Machteld M.; Wevers, Ron A.; Lefeber, Dirk J.; Esteve-Codina, Anna; Yepez, Vicente A.; Gagneur, Julien; Wortmann, Saskia B.; Prokisch, Holger; Ribes, Antonia; Garcia-Villoria, Judit; Tort, Frederic
Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities

血浆糖蛋白质组学通过检测位点特异性糖基化异常提供高特异性疾病生物标志物

JOURNAL OF ADVANCED RESEARCH
IF13
2024-07-015
OAAI
Wessels, Hans J. C. T.; Kulkarni, Purva; van Dael, Maurice; Suppers, Anouk; Willems, Esther; Zijlstra, Fokje; Kragt, Else; Gloerich, Jolein; Schmit, Pierre-Olivier; Pengelley, Stuart; Marx, Kristina; Gool, Alain J. van; Lefeber, Dirk J.
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma

M蛋白可变区的N-连接糖基化: 糖蛋白质组学揭示多发性骨髓瘤中个性化复杂性的新层

CLINICAL CHEMISTRY AND LABORATORY MEDICINE
IF3.7
2024-02-092
OA
Langerhorst, Pieter; Baerenfaenger, Melissa; Kulkarni, Purva; Nadal, Simon; Wijnands, Charissa; Post, Merel A.; Noori, Somayya; Vanduijn, Martijn M.; Joosten, Irma; Dejoie, Thomas; van Gool, Alain J.; Gloerich, Jolein; Lefeber, Dirk J.; Wessels, Hans J. C. T.; Jacobs, Joannes F. M.

研究方向

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R
Ron A. Wevers
H 指数:89论文数:713被引数:2.9万
É
Éva Morava
H 指数:70论文数:581被引数:1.6万
M
Monique van Scherpenzeel
H 指数:27论文数:47被引数:2,468
G
Gert Matthijs
H 指数:79论文数:604被引数:2.1万
J
Jaak Jaeken
H 指数:61论文数:823被引数:1.3万
K
Karin Huijben
H 指数:21论文数:58被引数:2,091
A
Angel Ashikov
H 指数:26论文数:54被引数:2,309
J
Jolanta Sykut‐Cegielska
H 指数:38论文数:137被引数:4,708
T
Thomas J. Boltje
H 指数:36论文数:145被引数:4,971
J
Joris A. Veltman
H 指数:102论文数:405被引数:3.7万