檢索結果 - 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 由 Vincent Cantagrel, Dirk J. Lefeber

    出版 2011
    獲取全文
    Revisão
    加到收藏夾
    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 由 Monique van Scherpenzeel, Esther Willems, Dirk J. Lefeber

    出版 2016
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  3. 3
    Clinical glycomics for the diagnosis of congenital disorders of glycosylation

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

    出版 2018
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    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 由 Suzan Wopereis, Dirk J. Lefeber, Éva Morava, Ron A. Wevers

    出版 2006
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  5. 5
    Autosomal recessive cutis laxa syndrome revisited

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

    出版 2009
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    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 由 Federica Conte, Nicole van Buuringen, Nicol C. Voermans, Dirk J. Lefeber

    出版 2021
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  7. 7
    Omics Biomarkers in Ophthalmology

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

    出版 2017
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  8. 8
    Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa

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

    出版 2009
    獲取全文
    Revisão
    加到收藏夾
    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 由 Dirk J. Lefeber, Barry Benaissa-Trouw, Johannes F.G. Vliegenthart, Johannis P. Kamerling, Wouter T. M. Jansen, Kees Kraaijeveld, H. Snippe

    出版 2003
    獲取全文
    Artigo
    加到收藏夾
    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 由 Maïlys Guillard, Éva Morava, Floris L. van Delft, Rosie Hague, Christian Körner, Maciej Adamowicz, Ron A. Wevers, Dirk J. Lefeber

    出版 2011
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  11. 11
    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy 由 Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi‐Vici, Liesbeth Keldermans, Sandrine Vuillaumier‐Barrot, Dirk J. Lefeber, Renzo Guerrini

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  12. 12
    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 由 Éder Alves Barbosa, Nilza do Carmo Fontes, Sonia Carvalho Santos, Dirk J. Lefeber, Carlos Bloch, Jaime Moritz Brum, Guilherme D. Brand

    出版 2019
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  13. 13
    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 由 Éva Morava, Renate Zeevaert, Eckhard Korsch, Karin Huijben, Suzan Wopereis, Gert Matthijs, Kathelijn Keymolen, Dirk J. Lefeber, Linda De Meırleır, Ron A. Wevers

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  14. 14
    The Epithelial Calcium Channel TRPV5 Is Regulated Differentially by Klotho and Sialidase

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

    出版 2013
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  15. 15
    Congenital disorders of glycosylation (CDG): Quo vadis?

    Congenital disorders of glycosylation (CDG): Quo vadis? 由 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

    出版 2017
    獲取全文
    Revisão
    加到收藏夾
    Saved in:
  16. 16
    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 由 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

    出版 2015
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  17. 17
    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 由 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

    出版 2017
    獲取全文
    Artigo
    加到收藏夾
    Saved in:
  18. 18
    An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

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

    出版 2020
    獲取全文 獲取全文
    Revisão
    加到收藏夾
    Saved in:
  19. 19
    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 由 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

    出版 2007
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  20. 20
    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 由 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

    出版 2016
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: