Search Results - Dirk J. Lefeber

Refine Results
  1. 1
    From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

    From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases by Vincent Cantagrel, Dirk J. Lefeber

    Published 2011
    Get full text
    Revisão
    Save to List
    Saved in:
  2. 2
    Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

    Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation by Monique van Scherpenzeel, Esther Willems, Dirk J. Lefeber

    Published 2016
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  3. 3
    Clinical glycomics for the diagnosis of congenital disorders of glycosylation

    Clinical glycomics for the diagnosis of congenital disorders of glycosylation by Nurulamin Abu Bakar, Dirk J. Lefeber, Monique van Scherpenzeel

    Published 2018
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  4. 4
    Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review

    Mechanisms in Protein O-Glycan Biosynthesis and Clinical and Molecular Aspects of Protein O-Glycan Biosynthesis Defects: A Review by Suzan Wopereis, Dirk J. Lefeber, Éva Morava, Ron A. Wevers

    Published 2006
    Get full text
    Revisão
    Save to List
    Saved in:
  5. 5
    Autosomal recessive cutis laxa syndrome revisited

    Autosomal recessive cutis laxa syndrome revisited by Éva Morava, Maïlys Guillard, Dirk J. Lefeber, Ron A. Wevers

    Published 2009
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  6. 6
    Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look

    Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look by Federica Conte, Nicole van Buuringen, Nicol C. Voermans, Dirk J. Lefeber

    Published 2021
    Get full text
    Revisão
    Save to List
    Saved in:
  7. 7
    Omics Biomarkers in Ophthalmology

    Omics Biomarkers in Ophthalmology by Susette Lauwen, Eiko K. de Jong, Dirk J. Lefeber, Anneke I. den Hollander

    Published 2017
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  8. 8
    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa by Maïlys Guillard, Aikaterini Dimopoulou, Björn Fischer‐Zirnsak, Éva Morava, Dirk J. Lefeber, Uwe Kornak, Ron A. Wevers

    Published 2009
    Get full text
    Revisão
    Save to List
    Saved in:
  9. 9
    Th1-Directing Adjuvants Increase the Immunogenicity of Oligosaccharide-Protein Conjugate Vaccines Related to<i>Streptococcus pneumoniae</i>Type 3

    Th1-Directing Adjuvants Increase the Immunogenicity of Oligosaccharide-Protein Conjugate Vaccines Related to<i>Streptococcus pneumoniae</i>Type 3 by Dirk J. Lefeber, Barry Benaissa-Trouw, Johannes F.G. Vliegenthart, Johannis P. Kamerling, Wouter T. M. Jansen, Kees Kraaijeveld, H. Snippe

    Published 2003
    Get full text
    Artigo
    Save to List
    Saved in:
  10. 10
    Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II

    Plasma N-Glycan Profiling by Mass Spectrometry for Congenital Disorders of Glycosylation Type II by Maïlys Guillard, Éva Morava, Floris L. van Delft, Rosie Hague, Christian Körner, Maciej Adamowicz, Ron A. Wevers, Dirk J. Lefeber

    Published 2011
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  11. 11
    Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry

    Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry by Éder Alves Barbosa, Nilza do Carmo Fontes, Sonia Carvalho Santos, Dirk J. Lefeber, Carlos Bloch, Jaime Moritz Brum, Guilherme D. Brand

    Published 2019
    Get full text
    Artigo
    Save to List
    Saved in:
  12. 12
    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

    A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia by Éva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meırleır, Ron A. Wevers

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  13. 13
    The Epithelial Calcium Channel TRPV5 Is Regulated Differentially by Klotho and Sialidase

    The Epithelial Calcium Channel TRPV5 Is Regulated Differentially by Klotho and Sialidase by E. H. P. Leunissen, Anil V. Nair, Christian Büll, Dirk J. Lefeber, Floris L. van Delft, René J.M. Bindels, Joost G.J. Hoenderop

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:
  14. 14
    Congenital disorders of glycosylation (CDG): Quo vadis?

    Congenital disorders of glycosylation (CDG): Quo vadis? by Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Éva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken

    Published 2017
    Get full text
    Revisão
    Save to List
    Saved in:
  15. 15
    Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands

    Sialic Acid Glycoengineering Using an Unnatural Sialic Acid for the Detection of Sialoglycan Biosynthesis Defects and On-Cell Synthesis of Siglec Ligands by Christian Büll, Torben Heise, Daniëlle M. H. Beurskens, Moniek Riemersma, Angel Ashikov, Floris P. J. T. Rutjes, Toin H. Van Kuppevelt, Dirk J. Lefeber, Martijn H. den Brok, Gosse J. Adema, Thomas J. Boltje

    Published 2015
    Get full text
    Artigo
    Save to List
    Saved in:
  16. 16
    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

    Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability by Anke P. Willems, Mehmet Gundogdu, Marlies Kempers, Jacques C. Giltay, Rolph Pfundt, Martin Elferink, Bettina Loza, Joris Fuijkschot, Andrew T. Ferenbach, Koen L.I. van Gassen, Daan M. F. van Aalten, Dirk J. Lefeber

    Published 2017
    Get full text
    Artigo
    Save to List
    Saved in:
  17. 17
    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase by Veronica M. Pravatà, Michaela Omelková, Marios P. Stavridis, Chelsea Desbiens, Hannah Stephen, Dirk J. Lefeber, Jozef Gécz, Mehmet Gundogdu, Katrin Õunap, Shelagh Joss, Charles E. Schwartz, Lance Wells, Daan M. F. van Aalten

    Published 2020
    Get full text Get full text
    Revisão
    Save to List
    Saved in:
  18. 18
    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

    Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation by Éva Morava, Dirk J. Lefeber, Zsolt Urbán, Linda De Meırleır, Peter Meinecke, G. Gillessen Kaesbach, Jolanta Sykut‐Cegielska, Michael S. Adamowicz, Ira S. Salafsky, Judith D. Ranells, Emmanuelle Lemyre, Jeroen van Reeuwijk, Han G. Brunner, Ron A. Wevers

    Published 2007
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  19. 19
    Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

    Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect by María Eugenia de la Morena‐Barrio, Irene Martínez‐Martínez, Carmen de Cos, Ewa Wypasek, Vanessa Roldán, Anetta Undas, Monique van Scherpenzeel, Dirk J. Lefeber, Mara Toderici, Teresa Sevivas, Francisco España, Jaak Jaeken, Javier Corral, Vicente Vicente

    Published 2016
    Get full text Get full text
    Artigo
    Save to List
    Saved in:
  20. 20
    Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

    Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry by Lucas T. Jae, Matthijs Raaben, Moniek Riemersma, Ellen van Beusekom, Vincent A. Blomen, Arno Velds, Ron Kerkhoven, Jan E. Carette, Haluk Topaloğlu, Peter Meinecke, Marja W. Wessels, Dirk J. Lefeber, Sean P. J. Whelan, Hans van Bokhoven, Thijn R. Brummelkamp

    Published 2013
    Get full text
    Artigo
    Save to List
    Saved in:

Search Tools: