Dirk J. Lefeber - Publications, H-index & Citations

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Dirk J. Lefeber

radboud university medical center

54H-index

274Paper Count

1.1WCitation Count

Published Papers 136

Publication Date

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

International Journal of Molecular Sciences

IF4.9

2026-07-23

OAAI

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

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Hans Vliegenthart (1936–2026), a pioneering glycoscientist

Glycoconjugate Journal

IF3.1

2026-07-20

PREAI

Cornelis (Ron) H. Hokke; Johannis (Hans) P. Kamerling; Dirk J. Lefeber

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Cellular homeostasis of N-acetylneuraminic acid and non-canonical sialic acids is mediated by human N-acetylneuraminate lyase

Glycobiology

IF3.3

2026-05-18

OAAI

Sjanie Huang; Iris Harmsen; Moritz Rahm; Takfarinas Kentache; Clara D M van Karnebeek; Afitz Da Silva; Alexey V Pshezhetsky; Emile Van Schaftingen; Alejandro Garanto; Dirk J Lefeber

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Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1

Scientific Reports

IF3.9

2026-03-31

OAAI

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

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Biosynthetic and genetic pathways related to sialic acid metabolism

Journal of Biological Chemistry

IF3.9

2026-02-06

OAAI

Sjanie Huang; Eline G.P. van de Ven; Trisha Tee; Dirk J. Lefeber

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Cross-modal integration of metabolomics and cardiac functionality captures dynamic metabotoxic effects of doxorubicin in engineered heart tissues

Stem Cell Reports

IF5.1

2025-12-04

OAAI

Federica Conte; Doroteya K. Staykova; Carla Cofiño-Fabres; Danique Snippert; Arno van Rooij; Dirk J. Lefeber; Robert Passier

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Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

JOURNAL OF INHERITED METABOLIC DISEASE

IF3.8

2025-12-02

OAAI

Martens, Jonathan; Engelke, Udo F. H.; Wevers, Ron A.; Lefeber, Dirk J.; Kulkarni, Purva

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Investigating the utilization mechanism and kinetics of sialic acid mimetics in mammalian cell lines

RSC CHEMICAL BIOLOGY

IF3.1

2025-10-01

OAAI

Visser, Eline A.; Hornikx, Daniel L. A. H.; Rahm, Moritz; Ozturk, Ozden; Psomiadou, Venetia; Calzari, Matteo; Mennen, Celine; Moons, Sam J.; Jaeger, Martin; Lefeber, Dirk J.; Bull, Christian; Boltje, Thomas J.

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Targeting AASS alleviates neurotoxicity and improves mitochondrial function in astrocyte models for pyridoxine dependent epilepsy

Molecular Therapy Nucleic Acids

IF6.1

2025-09-30

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

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Glycoproteomics analysis of complement factor H and its complement-regulatory function during Streptococcus pneumoniae-associated hemolytic uremic syndrome

Frontiers in Immunology

IF5.9

2025-08-21

OAAI

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†

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Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

GENOME MEDICINE

IF11.2

2025-02-07

OAAI

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

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Glycosylation as new molecular mechanism underlying Pediatric Inflammatory Bowel Disease

JOURNAL OF CROHNS & COLITIS

IF8.7

2025-01-22

PREAI

Amorim, R.; Santos-Pereira, B.; Dias, A. M.; Pinto, B. Sousa; Lefeber, D. J.; Espinheira, C.; Trindade, E.; Carneiro, F.; Gaifem, J.; Pinho, S.

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SLC10A7 regulates O-GalNAc glycosylation and Ca2+ homeostasis in the secretory pathway: insights into SLC10A7-CDG

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2025-01-08

OAAI

Durin, Zoe; Layotte, Aurore; Morelle, Willy; Houdou, Marine; Folcher, Antoine; Legrand, Dominique; Lefeber, Dirk; Prevarskaya, Natalia; Von Blume, Julia; Cormier-Daire, Valerie; Foulquier, Francois

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New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse

BRAIN COMMUNICATIONS

IF4.5

2025-01-01

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.

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Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing

MOLECULAR GENETICS AND METABOLISM

IF3.5

2024-07-01

PREAI

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

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Plasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities

JOURNAL OF ADVANCED RESEARCH

IF13

2024-07-01

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.

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Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow

ANALYTICAL CHEMISTRY

IF6.7

2024-05-22

OAAI

Baerenfaenger, Melissa; Post, Merel A.; Zijlstra, Fokje; van Gool, Alain J.; Lefeber, Dirk J.; Wessels, Hans J. C. T.

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Mixed-phase weak anion-exchange/reversed-phase LC-MS/MS for analysis of nucleotide sugars in human fibroblasts

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2024-04-27

OAAI

Rahm, Moritz; Kwast, Hanneke; Wessels, Hans J. C. T.; Noga, Marek J.; Lefeber, Dirk J.

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N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2024-02-09

OAAI

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.

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Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells

CELLS

IF5.2

2023-07-03

OAAI

Conte, Federica; Noga, Marek J.; van Scherpenzeel, Monique; Veizaj, Raisa; Scharn, Rik; Juda-El Sam; Palumbo, Chiara; van den Brandt, Frans C. A.; Freund, Christian; Soares, Eduardo; Zhou, Huiqing; Lefeber, Dirk J.

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Research Directions