Dirk J Lefeber

Affiliations
  • Department of Neurology, Donders Institute for Brain, Cognition and Behavior Radboud University Medical Center Nijmegen The Netherlands.
  • Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences Radboud University Medical Center Nijmegen The Netherlands.
ORCID: https://orcid.org/0000-0003-4442-4473

Publications (52)

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy.

JIMD reports
Avec: Walinka van Tol , Angel Ashikov , Eckhard Korsch , Nurulamin Abu Bakar , Michèl A Willemsen , Christian Thiel , Dirk J Lefeber

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

Nature communications
Avec: Holger Hengel , Célia Bosso-Lefèvre , George Grady , Emmanuelle Szenker-Ravi , Hankun Li , Sarah Pierce , Élise Lebigot , Thong-Teck Tan , Michelle Y Eio , Gunaseelan Narayanan , Kagistia Hana Utami , Monica Yau , Nader Handal , Werner Deigendesch , Reinhard Keimer , Hiyam M Marzouqa , Meral Gunay-Aygun , Michael J Muriello , Helene Verhelst , Sarah Weckhuysen , Sonal Mahida , Sakkubai Naidu , Terrence G Thomas , Jiin Ying Lim , Ee Shien Tan , Damien Haye , Michèl A A P Willemsen , Renske Oegema , Wendy G Mitchell , Tyler Mark Pierson , Marisa V Andrews , Marcia C Willing , Lance H Rodan , Tahsin Stefan Barakat , Marjon van Slegtenhorst , Ralitza H Gavrilova , Diego Martinelli , Tal Gilboa , Abdullah M Tamim , Mais O Hashem , Moeenaldeen D AlSayed , Maha M Abdulrahim , Mohammed Al-Owain , Ali Awaji , Adel A H Mahmoud , Eissa A Faqeih , Ali Al Asmari , Sulwan M Algain , Lamyaa A Jad , Hesham M Aldhalaan , Ingo Helbig , David A Koolen , Angelika Riess , Ingeborg Kraegeloh-Mann , Peter Bauer , Suleyman Gulsuner , Hannah Stamberger , Alvin Yu Jin Ng , Sha Tang , Sumanty Tohari , Boris Keren , Laura E Schultz-Rogers , Eric W Klee , Sabina Barresi , Marco Tartaglia , Hagar Mor-Shaked , Sateesh Maddirevula , Amber Begtrup , Aida Telegrafi , Rolph Pfundt , Rebecca Schüle , Brian Ciruna , Carine Bonnard , Mahmoud A Pouladi , James C Stewart , Adam Claridge-Chang , Dirk J Lefeber , Fowzan S Alkuraya , Ajay S Mathuru , Byrappa Venkatesh , Joseph J Barycki , Melanie A Simpson , Saumya S Jamuar , Ludger Schöls , Bruno Reversade

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy.

Clinical chemistry
Avec: Walinka van Tol , Monique van Scherpenzeel , Mohammad Alsady , Moniek Riemersma , Esther Hermans , Else Kragt , Giorgio Tasca , Erik-Jan Kamsteeg , Maartje Pennings , Ellen van Beusekom , Jeroen R Vermeulen , Hans van Bokhoven , Nicol C Voermans , Michèl A Willemsen , Angel Ashikov , Dirk J Lefeber

Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.

Journal of inherited metabolic disease
Avec: Mari-Anne Vals , Angel Ashikov , Pilvi Ilves , Dagmar Loorits , Qiang Zeng , Rita Barone , Karin Huijben , Jolanta Sykut-Cegielska , Luísa Diogo , Abdallah F Elias , Robert S Greenwood , Stephanie Grunewald , Peter M van Hasselt , Jiddeke M van de Kamp , Grazia Mancini , Agnieszka Okninska , Sander Pajusalu , Pauline M Rudd , Cecilie F Rustad , Ramona Salvarinova , Bert B A de Vries , Nicole I Wolf , Auteur inconnu , Bobby G Ng , Hudson H Freeze , Dirk J Lefeber , Katrin Õunap

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.

Journal of inherited metabolic disease
Avec: Walinka van Tol , Helen Michelakakis , Elissavet Georgiadou , Peter van den Bergh , Marina Moraitou , George K Papadimas , Constantinos Papadopoulos , Karin Huijben , Mohammad Alsady , Michèl A Willemsen , Dirk J Lefeber

Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation.

European journal of human genetics : EJHG
Avec: Jaak Jaeken , Dirk J Lefeber , Gert Matthijs

Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.

International journal of molecular sciences
Avec: Agnes L Hipgrave Ederveen , Noortje de Haan , Melissa Baerenfaenger , Dirk J Lefeber , Manfred Wuhrer

Increased pro-MMP9 plasma levels are associated with neovascular age-related macular degeneration and with the risk allele of rs142450006 near

Molecular vision
Avec: Susette Lauwen , Dirk J Lefeber , Sascha Fauser , Carel B Hoyng , Anneke I den Hollander

Nucleotide sugar profiles throughout development in wildtype and galt knockout zebrafish.

Journal of inherited metabolic disease
Avec: Minela Haskovic , Ana I Coelho , Martijn Lindhout , Fokje Zijlstra , Raisa Veizaj , Rein Vos , Jo M Vanoevelen , Jörgen Bierau , Dirk J Lefeber , M Estela Rubio-Gozalbo

Congenital disorders of glycosylation with defective fucosylation.

Journal of inherited metabolic disease
Avec: Andreas Hüllen , Kristina Falkenstein , Corina Weigel , Hidde Huidekoper , Nora Naumann-Bartsch , Johannes Spenger , René G Feichtinger , Jacqueline Schaefers , Stephanie Frenz , Daniel Kotlarz , Tooba Momen , Razieh Khoshnevisan , Korbinian M Riedhammer , René Santer , Theresia Herget , Alexander Rennings , Dirk J Lefeber , Johannes A Mayr , Christian Thiel , Saskia B Wortmann

Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.

Glycobiology
Avec: Monique van Scherpenzeel , Federica Conte , Christian Büll , Angel Ashikov , Esther Hermans , Anke Willems , Walinka van Tol , Else Kragt , Marek Noga , Ed E Moret , Torben Heise , Jeroen D Langereis , Emiel Rossing , Michael Zimmermann , M Estela Rubio-Gozalbo , Marien I de Jonge , Gosse J Adema , Nicola Zamboni , Thomas Boltje , Dirk J Lefeber

Development of tools to facilitate the diagnosis of hereditary fructose intolerance.

JIMD reports
Avec: Bianca Panis , Lise E F Janssen , Dirk J Lefeber , Nynke Simons , M Estela Rubio-Gozalbo , Martijn C G J Brouwers

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

Analytical and bioanalytical chemistry
Avec: Moritz Rahm , Hanneke Kwast , Hans J C T Wessels , Marek J Noga , Dirk J Lefeber

Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.

Clinica chimica acta; international journal of clinical chemistry
Avec: E A Barbosa , N do C Fontes , S C L Santos , D J Lefeber , C Bloch , J M Brum , G D Brand

O-glycosylation disorders pave the road for understanding the complex human O-glycosylation machinery.

Current opinion in structural biology
Avec: Walinka van Tol , Hans Wessels , Dirk J Lefeber

Activity of N-acylneuraminate-9-phosphatase (NANP) is not essential for de novo sialic acid biosynthesis.

Biochimica et biophysica acta. General subjects
Avec: Anke P Willems , Lingbo Sun , Morten Alder Schulz , Weihua Tian , Angel Ashikov , Monique van Scherpenzeel , Esther Hermans , Henrik Clausen , Zhang Yang , Dirk J Lefeber

Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2.

The Journal of biological chemistry
Avec: Renske J E van den Bijgaart , Michiel Kroesen , Melissa Wassink , Ingrid C Brok , Esther D Kers-Rebel , Louis Boon , Torben Heise , Monique van Scherpenzeel , Dirk J Lefeber , Thomas J Boltje , Martijn H den Brok , Peter M Hoogerbrugge , Christian Büll , Gosse J Adema

Fluorinated rhamnosides inhibit cellular fucosylation.

Nature communications
Avec: Johan F A Pijnenborg , Emiel Rossing , Jona Merx , Marek J Noga , Willem H C Titulaer , Nienke Eerden , Raisa Veizaj , Paul B White , Dirk J Lefeber , Thomas J Boltje

D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial.

Orphanet journal of rare diseases
Avec: Peter Witters , Hans Andersson , Jaak Jaeken , Laura Tseng , Clara D M van Karnebeek , Dirk J Lefeber , David Cassiman , Eva Morava

Examining the Distribution and Impact of Single-Nucleotide Polymorphisms in the Capsular Locus of Streptococcus pneumoniae Serotype 19A.

Infection and immunity
Avec: D W Arends , W R Miellet , J D Langereis , T H A Ederveen , C E van der Gaast-de Jongh , M van Scherpenzeel , M J Knol , N M van Sorge , D J Lefeber , K Trzciński , E A M Sanders , H C Dorfmueller , H J Bootsma , M I de Jonge

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.

International journal of molecular sciences
Avec: Federica Conte , Juda-El Sam , Dirk J Lefeber , Robert Passier

ATP6AP1-CDG: Follow-up and female phenotype.

JIMD reports
Avec: Patryk Lipiński , Dariusz Rokicki , Anna Bogdańska , Justyna Lesiak , Dirk J Lefeber , Anna Tylki-Szymańska

Screening for abnormal glycosylation in a cohort of adult liver disease patients.

Journal of inherited metabolic disease
Avec: Jos C Jansen , Bart van Hoek , Herold J Metselaar , Aad P van den Berg , Fokje Zijlstra , Karin Huijben , Monique van Scherpenzeel , Joost P H Drenth , Dirk J Lefeber

Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.

Hepatology (Baltimore, Md.)
Avec: Magda Cannata Serio , Laurie A Graham , Angel Ashikov , Lars Elmann Larsen , Kimiyo Raymond , Sharita Timal , Gwenn Le Meur , Margret Ryan , Elzbieta Czarnowska , Jos C Jansen , Miao He , Can Ficicioglu , Pavel Pichurin , Linda Hasadsri , Berge Minassian , Alessandra Rugierri , Hannu Kalimo , W Alfredo Ríos-Ocampo , Christian Gilissen , Richard Rodenburg , Johan W Jonker , Adriaan G Holleboom , Eva Morava , Joris A Veltman , Piotr Socha , Tom H Stevens , Matias Simons , Dirk J Lefeber

Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.

The Journal of clinical endocrinology and metabolism
Avec: Nynke Simons , François-Guillaume Debray , Nicolaas C Schaper , M Eline Kooi , Edith J M Feskens , Carla E M Hollak , Lucas Lindeboom , Ger H Koek , Judith A P Bons , Dirk J Lefeber , Leanne Hodson , Casper G Schalkwijk , Coen D A Stehouwer , David Cassiman , Martijn C G J Brouwers

Desialylation of platelets induced by Von Willebrand Factor is a novel mechanism of platelet clearance in dengue.

PLoS pathogens
Avec: Silvita Fitri Riswari , Rahajeng N Tunjungputri , Vesla Kullaya , Fadel M Garishah , Gloria S R Utari , Nur Farhanah , Gijs J Overheul , Bachti Alisjahbana , M Hussein Gasem , Rolf T Urbanus , Philip G de Groot , Dirk J Lefeber , Ronald P van Rij , Andre van der Ven , Quirijn de Mast

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

American journal of human genetics
Avec: Matthew P Wilson , Alejandro Garanto , Filippo Pinto E Vairo , Bobby G Ng , Wasantha K Ranatunga , Marina Ventouratou , Melissa Baerenfaenger , Karin Huijben , Christian Thiel , Angel Ashikov , Liesbeth Keldermans , Erika Souche , Sandrine Vuillaumier-Barrot , Thierry Dupré , Helen Michelakakis , Agata Fiumara , James Pitt , Susan M White , Sze Chern Lim , Lyndon Gallacher , Heidi Peters , Daisy Rymen , Peter Witters , Antonia Ribes , Blai Morales-Romero , Agustí Rodríguez-Palmero , Diana Ballhausen , Pascale de Lonlay , Rita Barone , Mirian C H Janssen , Jaak Jaeken , Hudson H Freeze , Gert Matthijs , Eva Morava , Dirk J Lefeber

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.

Journal of inherited metabolic disease
Avec: Marjolein A W van den Boogert , Cleo L Crunelle , Lubna Ali , Lars E Larsen , Sacha D Kuil , Johannes H M Levels , Alinda W M Schimmel , Vassiliki Konstantopoulou , Maryse Guerin , Jan Albert Kuivenhoven , Geesje M Dallinga-Thie , Erik S G Stroes , Dirk J Lefeber , Adriaan G Holleboom

CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.

Nature communications
Avec: Hideki Tokuoka , Rieko Imae , Hitomi Nakashima , Hiroshi Manya , Chiaki Masuda , Shunsuke Hoshino , Kazuhiro Kobayashi , Dirk J Lefeber , Riki Matsumoto , Takashi Okada , Tamao Endo , Motoi Kanagawa , Tatsushi Toda

Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Journal of inherited metabolic disease
Avec: Nurulamin Abu Bakar , Angel Ashikov , Jaime Moritz Brum , Roel Smeets , Marjan Kersten , Karin Huijben , Wee Teik Keng , Carlos Eduardo Speck-Martins , Daniel Rocha de Carvalho , Isabela Maria Pinto Oliveira de Rizzo , Walquiria Domingues de Mello , Rebecca Heiner-Fokkema , Kathleen Gorman , Stephanie Grunewald , Helen Michelakakis , Marina Moraitou , Diego Martinelli , Monique van Scherpenzeel , Mirian Janssen , Lonneke de Boer , Lambertus P van den Heuvel , Christian Thiel , Dirk J Lefeber

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

American journal of human genetics
Avec: Daniel L Polla , Andrew C Edmondson , Sandrine Duvet , Michael E March , Ana Berta Sousa , Anna Lehman , Auteur inconnu , Dmitriy Niyazov , Fleur van Dijk , Serwet Demirdas , Marjon A van Slegtenhorst , Anneke J A Kievit , Celine Schulz , Linlea Armstrong , Xin Bi , Daniel J Rader , Kosuke Izumi , Elaine H Zackai , Elisa de Franco , Paula Jorge , Sophie C Huffels , Marina Hommersom , Sian Ellard , Dirk J Lefeber , Avni Santani , Nicholas J Hand , Hans van Bokhoven , Miao He , Arjan P M de Brouwer

Science advances
Avec: Afitz Da Silva , Junio Dort , Zakaria Orfi , Xuefang Pan , Sjanie Huang , Ikhui Kho , Emilie Heckel , Giacomo Muscarnera , Patrick Piet van Vliet , Luisa Sturiale , Angela Messina , Donata Agata Romeo , Clara D M van Karnebeek , Xiao-Yan Wen , Aleksander Hinek , Thomas Molina , Gregor Andelfinger , Benjamin Ellezam , Yojiro Yamanaka , Hernando J Olivos , Carlos R Morales , Jean-Sébastien Joyal , Dirk J Lefeber , Domenico Garozzo , Nicolas A Dumont , Alexey V Pshezhetsky

Sialic acid biosynthesis pathway blockade disturbs neuronal network formation in human iPSC-derived excitatory neurons.

Journal of neurochemistry
Avec: Rachel Mijdam , Chantal Bijnagte-Schoenmaker , Emma Dyke , Sam J Moons , Thomas J Boltje , Nael Nadif Kasri , Dirk J Lefeber

Analysis of hemopexin plasma levels in patients with age-related macular degeneration.

Molecular vision
Avec: Susette Lauwen , Bjorn Bakker , Eiko K de Jong , Sascha Fauser , Carel B Hoyng , Dirk J Lefeber , Anneke I den Hollander

Glia-neuron coupling via a bipartite sialylation pathway promotes neural transmission and stress tolerance in

eLife
Avec: Hilary Scott , Boris Novikov , Berrak Ugur , Brooke Allen , Ilya Mertsalov , Pedro Monagas-Valentin , Melissa Koff , Sarah Baas Robinson , Kazuhiro Aoki , Raisa Veizaj , Dirk J Lefeber , Michael Tiemeyer , Hugo Bellen , Vladislav Panin

Mimicking Behçet's disease: GM-CSF gain of function mutation in a family suffering from a Behçet's disease-like disorder marked by extreme pathergy.

Clinical and experimental immunology
Avec: B Rösler , B Heinhuis , X Wang , R Silvestre , L A B Joosten , M G Netea , P Arts , T Mantere , D J Lefeber , A Hoischen , F L van de Veerdonk

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Molecular genetics and metabolism
Avec: Federica Conte , Eva Morava , Nurulamin Abu Bakar , Saskia B Wortmann , Anne Jonge Poerink , Stephanie Grunewald , Ellen Crushell , Lihadh Al-Gazali , Maaike C de Vries , Lars Mørkrid , Jozef Hertecant , Katja S Brocke Holmefjord , David Kronn , Annette Feigenbaum , Ralph Fingerhut , Sunnie Y Wong , Monique van Scherpenzeel , Nicol C Voermans , Dirk J Lefeber

Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clinical genetics
Avec: Celia Medrano , Ana Vega , Rosa Navarrete , M Jesús Ecay , Rocío Calvo , Samuel Ignacio Pascual , Mónica Ruiz-Pons , Laura Toledo , Inmaculada García-Jiménez , Ignacio Arroyo , Andrea Campo , M Luz Couce , M Rosario Domingo-Jiménez , M Teresa García-Silva , Luis González-Gutiérrez-Solana , Loreto Hierro , Elena Martín-Hernández , Mercedes Martínez-Pardo , Susana Roldán , Miguel Tomás , Jose C Cabrera , Francisco Mártinez-Bugallo , Lucía Martín-Viota , Isidro Vitoria-Miñana , Dirk J Lefeber , M Luisa Girós , Mercedes Serrano Gimare , Magdalena Ugarte , Belén Pérez , Celia Pérez-Cerdá

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction.

Clinical genetics
Avec: Daan M Panneman , Saskia B Wortmann , Charlotte A Haaxma , Peter M van Hasselt , Nicole I Wolf , Yvonne Hendriks , Benno Küsters , Sjenet van Emst-de Vries , Els van de Westerlo , Werner J H Koopman , Liesbeth Wintjes , Frans van den Brandt , Maaike de Vries , Dirk J Lefeber , Jan A M Smeitink , Richard J Rodenburg

Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.

International journal of molecular sciences
Avec: Peter T A Linders , Ella Peters , Martin Ter Beest , Dirk J Lefeber , Geert van den Bogaart

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase.

European journal of human genetics : EJHG
Avec: Veronica M Pravata , Michaela Omelková , Marios P Stavridis , Chelsea M Desbiens , Hannah M Stephen , Dirk J Lefeber , Jozef Gecz , Mehmet Gundogdu , Katrin Õunap , Shelagh Joss , Charles E Schwartz , Lance Wells , Daan M F van Aalten

Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow.

Analytical chemistry
Avec: Melissa Baerenfaenger , Merel A Post , Fokje Zijlstra , Alain J van Gool , Dirk J Lefeber , Hans J C T Wessels

Oral ribose supplementation in dystroglycanopathy: A single case study.

JIMD reports
Avec: R M J Thewissen , M A Post , D M Maas , R Veizaj , I Wagenaar , M Alsady , J Kools , K Bouman , H Zweers , P G Meregalli , A J van der Kooi , P A van Doorn , J T Groothuis , D J Lefeber , N C Voermans

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.

International journal of molecular sciences
Avec: Melissa Baerenfaenger , Merel A Post , Pieter Langerhorst , Karin Huijben , Fokje Zijlstra , Joannes F M Jacobs , Marcel M Verbeek , Hans J C T Wessels , Dirk J Lefeber

MOGS-CDG: Quantitative analysis of the diagnostic Glc

Journal of inherited metabolic disease
Avec: Merel A Post , Isis de Wit , Fokje S M Zijlstra , Udo F H Engelke , Arno van Rooij , John Christodoulou , Tiong Yang Tan , Anna Le Fevre , Danqun Jin , Joy Yaplito-Lee , Beom Hee Lee , Karen J Low , Andrew A Mallick , Katrin Õunap , James Pitt , William Reardon , Mari-Anne Vals , Saskia B Wortmann , Hans J C T Wessels , Melissa Bärenfänger , Clara D M van Karnebeek , Dirk J Lefeber

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.

International journal of molecular sciences
Avec: Federica Conte , Angel Ashikov , Rachel Mijdam , Eline G P van de Ven , Monique van Scherpenzeel , Raisa Veizaj , Seyed P Mahalleh-Yousefi , Merel A Post , Karin Huijben , Daan M Panneman , Richard J T Rodenburg , Nicol C Voermans , Alejandro Garanto , Werner J H Koopman , Hans J C T Wessels , Marek J Noga , Dirk J Lefeber

Oral sialic acid supplementation in NANS-CDG: Results of a single center, open-label, observational pilot study.

Journal of inherited metabolic disease
Avec: Bibiche den Hollander , Marion M Brands , Lonneke de Boer , Charlotte A Haaxma , Anna Lengyel , Peter van Essen , Gera Peters , Hanneke J T Kwast , Willemijn M Klein , Karlien L M Coene , Dirk J Lefeber , Clara D M van Karnebeek

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.

Analytical chemistry
Avec: Rianne E van Outersterp , Pieter C Kooijman , Jona Merx , Udo F H Engelke , Nematollah Omidikia , Mei-Lan H Tonneijck , Kas J Houthuijs , Giel Berden , Tessa M A Peters , Dirk J Lefeber , Michel A A P Willemsen , Jasmin Mecinovic , Jeroen J Jansen , Karlien L M Coene , Ron A Wevers , Thomas J Boltje , Jos Oomens , Jonathan Martens

N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.

Circulation
Avec: Marjolein A W van den Boogert , Lars E Larsen , Lubna Ali , Sacha D Kuil , Patrick L W Chong , Anke Loregger , Jeffrey Kroon , Johan G Schnitzler , Alinda W M Schimmel , Jorge Peter , Johannes H M Levels , Gerry Steenbergen , Eva Morava , Geesje M Dallinga-Thie , Ron A Wevers , Jan Albert Kuivenhoven , Nicholas J Hand , Noam Zelcer , Daniel J Rader , Erik S G Stroes , Dirk J Lefeber , Adriaan G Holleboom

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

Journal of human genetics
Avec: Karen M Knapp , Rebecca Luu , Melissa Baerenfaenger , Fokje Zijlstra , Hans J C T Wessels , Danielle Jenkins , Dirk J Lefeber , Katherine Neas , Louise S Bicknell

Biological and Technical Challenges in Unraveling the Role of N-Glycans in Immune Receptor Regulation.

Frontiers in chemistry
Avec: Paola de Haas , Wiljan J A J Hendriks , Dirk J Lefeber , Alessandra Cambi

Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.

Experimental eye research
Avec: Susette Lauwen , Melissa Baerenfaenger , Sanne Ruigrok , Eiko K de Jong , Hans J C T Wessels , Anneke I den Hollander , Dirk J Lefeber

Réseau de co-auteurs

Angel Ashikov 9 collaborations
Monique van Scherpenzeel 8 collaborations
Karin Huijben 7 collaborations
Hans J C T Wessels 7 collaborations
Melissa Baerenfaenger 6 collaborations
Walinka van Tol 5 collaborations
Fokje Zijlstra 5 collaborations
Eva Morava 5 collaborations
Christian Thiel 4 collaborations
Raisa Veizaj 4 collaborations
Saskia B Wortmann 4 collaborations
Federica Conte 4 collaborations
D J Lefeber 4 collaborations
Thomas J Boltje 4 collaborations
Clara D M van Karnebeek 4 collaborations
Merel A Post 4 collaborations
Nurulamin Abu Bakar 3 collaborations
Michèl A Willemsen 3 collaborations
Esther Hermans 3 collaborations
Nicol C Voermans 3 collaborations
Stephanie Grunewald 3 collaborations
Katrin Õunap 3 collaborations
Helen Michelakakis 3 collaborations
Jaak Jaeken 3 collaborations
Susette Lauwen 3 collaborations
Anneke I den Hollander 3 collaborations
M Estela Rubio-Gozalbo 3 collaborations
Marek J Noga 3 collaborations
Adriaan G Holleboom 3 collaborations
Diego Martinelli 2 collaborations
Mohammad Alsady 2 collaborations
Else Kragt 2 collaborations
Hans van Bokhoven 2 collaborations
Mari-Anne Vals 2 collaborations
Rita Barone 2 collaborations
Peter M van Hasselt 2 collaborations
Nicole I Wolf 2 collaborations
None None 2 collaborations
Bobby G Ng 2 collaborations
Hudson H Freeze 2 collaborations
Marina Moraitou 2 collaborations
Gert Matthijs 2 collaborations
Sascha Fauser 2 collaborations
Carel B Hoyng 2 collaborations
Christian Büll 2 collaborations
Torben Heise 2 collaborations
Emiel Rossing 2 collaborations
Gosse J Adema 2 collaborations
Nynke Simons 2 collaborations
Martijn C G J Brouwers 2 collaborations
Jona Merx 2 collaborations
Peter Witters 2 collaborations
David Cassiman 2 collaborations
Jos C Jansen 2 collaborations
Miao He 2 collaborations
Alejandro Garanto 2 collaborations
James Pitt 2 collaborations
Marjolein A W van den Boogert 2 collaborations
Lubna Ali 2 collaborations
Lars E Larsen 2 collaborations
Sacha D Kuil 2 collaborations
Johannes H M Levels 2 collaborations
Alinda W M Schimmel 2 collaborations
Jan Albert Kuivenhoven 2 collaborations
Geesje M Dallinga-Thie 2 collaborations
Erik S G Stroes 2 collaborations
Lonneke de Boer 2 collaborations
Daniel J Rader 2 collaborations
Nicholas J Hand 2 collaborations
Rachel Mijdam 2 collaborations
Eiko K de Jong 2 collaborations
Daan M Panneman 2 collaborations
Charlotte A Haaxma 2 collaborations
Werner J H Koopman 2 collaborations
Udo F H Engelke 2 collaborations
Karlien L M Coene 2 collaborations
Ron A Wevers 2 collaborations
Eckhard Korsch 1 collaboration
Holger Hengel 1 collaboration
Célia Bosso-Lefèvre 1 collaboration
George Grady 1 collaboration
Emmanuelle Szenker-Ravi 1 collaboration
Hankun Li 1 collaboration
Sarah Pierce 1 collaboration
Élise Lebigot 1 collaboration
Thong-Teck Tan 1 collaboration
Michelle Y Eio 1 collaboration
Gunaseelan Narayanan 1 collaboration
Kagistia Hana Utami 1 collaboration
Monica Yau 1 collaboration
Nader Handal 1 collaboration
Werner Deigendesch 1 collaboration
Reinhard Keimer 1 collaboration
Hiyam M Marzouqa 1 collaboration
Meral Gunay-Aygun 1 collaboration
Michael J Muriello 1 collaboration
Helene Verhelst 1 collaboration
Sarah Weckhuysen 1 collaboration
Sonal Mahida 1 collaboration
Sakkubai Naidu 1 collaboration
Terrence G Thomas 1 collaboration
Jiin Ying Lim 1 collaboration
Ee Shien Tan 1 collaboration
Damien Haye 1 collaboration
Michèl A A P Willemsen 1 collaboration
Renske Oegema 1 collaboration
Wendy G Mitchell 1 collaboration
Tyler Mark Pierson 1 collaboration
Marisa V Andrews 1 collaboration
Marcia C Willing 1 collaboration
Lance H Rodan 1 collaboration
Tahsin Stefan Barakat 1 collaboration
Marjon van Slegtenhorst 1 collaboration
Ralitza H Gavrilova 1 collaboration
Tal Gilboa 1 collaboration
Abdullah M Tamim 1 collaboration
Mais O Hashem 1 collaboration
Moeenaldeen D AlSayed 1 collaboration
Maha M Abdulrahim 1 collaboration
Mohammed Al-Owain 1 collaboration
Ali Awaji 1 collaboration
Adel A H Mahmoud 1 collaboration
Eissa A Faqeih 1 collaboration
Ali Al Asmari 1 collaboration
Sulwan M Algain 1 collaboration
Lamyaa A Jad 1 collaboration
Hesham M Aldhalaan 1 collaboration
Ingo Helbig 1 collaboration
David A Koolen 1 collaboration
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