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| Full Text | Issue Date | Title | Author(s) |  | 2012 | Protein enrichment by capture-release based on strain-promoted cycloaddition of azide with bicyclononyne (bcn) | Temming, R.P.; Scherpenzeel, M. van; Brinke, E.T.; Schoffelen, S.; Gloerich, J.; Lefeber, D.J.; Delft, F.L. van |
 | 2011 | CDG - an update | Morava, E.; Lefeber, D.J. |
| | 2011 | How to find and diagnose a CDG due to defective N-glycosylation | Lefeber, D.J.; Morava, E.; Jaeken, J. |
| | 2011 | Normal glycosylation screening does not rule out SRD5A3-CDG | Mohamed, M.; Cantagrel, V.; Al-Gazali, L.; Wevers, R.A.; Lefeber, D.J.; Morava, E. |
| | 2011 | A new glycosylation deficiency syndrome. | Wild, M.K.; Denecke, J.; Strater, R.; Stolting, T.; Schunicht, Y.; Zeuschner, D.; Klumperman, J.; Lefeber, D.J.; Spelten, O.; Zarbock, A.; Kelm, S.; Strenge, S.; Haslam, S.; Luhn, K.; Stahl, D.; Gentile, L.; Schreiter, T.; Hilgard, P.; Beck-Sickinger, A.G.; Marquardt, T. |
| | 2011 | B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement | Guillard, M.; Morava, E.; Ruijter, J. de; Roscioli, T.; Penzien, J.; Heuvel, L.P.W.J. van den; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Bodamer, O.A.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | A novel type of macrothrombocytopenia associated with a defect in alpha2,3-sialylation | Jones, C.; Denecke, J.; Strater, R.; Stolting, T.; Schunicht, Y.; Zeuschner, D.; Klumperman, J.; Lefeber, D.J.; Spelten, O.; Zarbock, A.; Kelm, S.; Strenge, K.; Haslam, S.M.; Luhn, K.; Stahl, D.; Gentile, L.; Schreiter, T.; Hilgard, P.; Beck-Sickinger, A.G.; Marquardt, T.; Wild, M.K. |
| | 2011 | Heterozygosity for a Loss-of-Function Mutation in GALNT2 Improves Plasma Triglyceride Clearance in Man. | Holleboom, A.G.; Karlsson, H.; Lin, R.S.; Beres, T.M.; Sierts, J.A.; Herman, D.S.; Stroes, E.S.; Aerts, J.M.F.G.; Kastelein, J.J.; Motazacker, M.M.; Dallinga-Thie, G.M.; Levels, J.H.; Zwinderman, A.H.; Seidman, J.G.; Seidman, C.E.; Ljunggren, S.; Lefeber, D.J.; Morava, E.; Wevers, R.A.; Fritz, T.A.; Tabak, L.A.; Lindahl, M.; Hovingh, G.K.; Kuivenhoven, J.A. |
| | 2011 | Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency | Achouitar, S.; Goldstein, J.L.; Mohamed, M.; Austin, S.; Boyette, K.; Blanpain, F.M.; Rehder, C.W.; Kishnani, P.S.; Wortmann, S.B.; Heijer, M. den; Lefeber, D.J.; Wevers, R.A.; Bali, D.S.; Morava, E. |
| | 2011 | From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases | Cantagrel, V.; Lefeber, D.J. |
| | 2011 | Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature | Hosson, L.D. de; Warrenburg, B.P.C. van de; Preijers, F.W.M.B.; Blijlevens, N.M.A.; Reijden, B.A. van der; Kremer, H.P.H.; Lefeber, D.J.; Allebes, W.A.; Al-Ali, H.; Niederwieser, D.W.; Schaap, N.P.M.; Schattenberg, A.V.M.B. |
 | 2011 | Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. | Lefeber, D.J.; Brouwer, A.P.M. de; Morava, E.; Riemersma, M.; Schuurs-Hoeijmakers, J.H.M.; Absmanner, B.; Verrijp, K.; Akker, W.M.R. van den; Huijben, K.; Steenbergen, G.C.; Reeuwijk, J. van; Jozwiak, A.; Zucker, N.; Lorber, A.; Lammens, M.M.Y.; Knopf, C.; Bokhoven, H. van; Grunewald, S.; Lehle, L.; Kapusta, L.; Mandel, H.; Wevers, R.A. |
| | 2011 | Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern | Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E.; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; Spronsen, F.J. van; Niezen-Koning, K.E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B.C.; Zeevaert, R.; Wevers, R.A.; Lefeber, D.J.; Morava, E. |
| | 2011 | Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I | Guillard, M.; Wada, Y.; Hansikova, H.; Yuasa, I.; Vesela, K.; Ondruskova, N.; Kadoya, M.; Janssen, A.; Heuvel, L.P.W.J. van den; Morava, E.; Zeman, J.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II | Guillard, M.; Morava, E.; Delft, F.L. van; Hague, R.; Korner, C.; Adamowicz, M.; Wevers, R.A.; Lefeber, D.J. |
| | 2011 | Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family | Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A. |
| | 2010 | De Barsy sydrome and ATP6V0A2-CDG Reply. | Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A. |
| | 2010 | Chitotriosidase activity in controls and multiple sclerosis. | Verbeek, M.M.; Lefeber, D.J.; Jongen, P.J.H. |
| | 2010 | Readily Accessible Bicyclononynes for Bioorthogonal Labeling and Three-Dimensional Imaging of Living Cells | Dommerholt, J.; Schmidt, S.; Temming, R.P.; Hendriks, L.J.A.; Rutjes, F.P.J.T.; Hest, J.C.M. van; Lefeber, D.J.; Friedl, P.H.A.; Delft, F.L. van |
| | 2010 | MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. | Albrecht, B.; Brouwer, A.P.M. de; Lefeber, D.J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S.B.; Wevers, R.A.; Kornak, U.; Morava, E. |
| | 2010 | Readily accessible bicyclononynes for bioorthogonal labeling and three-dimensional imaging of living cells. | Dommerholt, J.; Schmidt, S.; Temming, R.; Hendriks, L.J.; Rutjes, F.P.J.T.; Hest, J.C. van; Lefeber, D.J.; Friedl, P.H.A.; Delft, F.L. van |
| | 2010 | Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. | Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de; Pfundt, R.; Leeuw, N. de; Marcelis, C.L.M.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E. |
| | 2010 | Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy. | Voermans, N.C.; Guillard, M.; Doedee, R.; Lammens, M.M.Y.; Huizing, M.; Padberg, G.W.A.M.; Wevers, R.A.; Engelen, B.G.M. van; Lefeber, D.J. |
| | 2010 | SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. | Cantagrel, V.; Lefeber, D.J.; Ng, B.G.; Guan, Z.; Silhavy, J.L.; Bielas, S.L.; Lehle, L.; Hombauer, H.; Adamowicz, M.; Swiezewska, E.; Brouwer, A.P.M. de; Blumel, P.; Sykut-Cegielska, J.; Houliston, S.; Swistun, D.; Ali, B.R.; Dobyns, W.B.; Babovic-Vuksanovic, D.; Bokhoven, J.H.L.M. van; Wevers, R.A.; Raetz, C.R.; Freeze, H.H.; Morava, E.; Al-Gazali, L.; Gleeson, J.G. |
| | 2010 | Congenital disorders of glycosylation in hepatology: the example of polycystic liver disease. | Janssen, M.J.; Waanders, E.; Woudenberg, J.; Lefeber, D.J.; Drenth, J.P.H. |
| | 2010 | Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia. | Verhoeven, W.M.A.; Csepan, R.; Marcelis, C.L.M.; Lefeber, D.J.; Egger, J.I.; Tuinier, S. |
| | 2010 | New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. | Delnooz, C.C.S.; Lefeber, D.J.; Langemeijer, S.M.C.; Hoffjan, S.; Dekomien, G.; Zwarts, M.J.; Engelen, B.G.M. van; Wevers, R.A.; Schelhaas, H.J.; Warrenburg, B.P.C. van de |
| | 2010 | Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid. | Ham, M. van der; Koning, T.J. de; Lefeber, D.J.; Fleer, A.; Prinsen, B.H.; Sain-van der Velden, M.G. de |
| | 2010 | Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. | Bandah-Rozenfeld, D.; Collin, R.W.J.; Banin, E.; Born, L.I. van den; Coene, K.L.M.; Siemiatkowska, A.M.; Zelinger, L.; Khan, M.I.; Lefeber, D.J.; Erdinest, I.; Testa, F.; Simonelli, F.; Voesenek, K.E.J.; Blokland, E.A.W.; Strom, T.M.; Klaver, C.C.; Qamar, R.; Banfi, S.; Cremers, F.P.M.; Sharon, D.; Hollander, A.I. den |
| | 2010 | A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. | Morava, E.; Wevers, R.A.; Cantagrel, V.; Hoefsloot, L.H.; Al-Gazali, L.; Schoots, J.; Rooij, A. van; Huijben, K.; Ravenswaaij-Arts, C.M.A. van; Jongmans, M.C.J.; Sykut-Cegielska, J.; Hoffmann, G.F.; Bluemel, P.; Adamowicz, M.; Reeuwijk, J. van; Ng, B.G.; Bergman, J.E.; Bokhoven, J.H.L.M. van; Korner, C.; Babovic-Vuksanovic, D.; Willemsen, M.A.A.P.; Gleeson, J.G.; Lehle, L.; Brouwer, A.P.M. de; Lefeber, D.J. |
| | 2009 | Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. | Morava, E.; Wevers, R.A.; Willemsen, M.A.A.P.; Lefeber, D.J. |
| | 2009 | Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. | Morava, E.; Wosik, H.; Sykut-Cegielska, J.; Adamowicz, M.; Guillard, M.; Wevers, R.A.; Lefeber, D.J.; Cruysberg, J.R.M. |
| | 2009 | Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. | Guillard, M.; Dimopoulou, A.; Fischer, B.; Morava, E.; Lefeber, D.J.; Kornak, U.; Wevers, R.A. |
| | 2009 | Autosomal recessive cutis laxa syndrome revisited. | Morava, E.; Guillard, M.; Lefeber, D.J.; Wevers, R.A. |
| | 2009 | Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia | Csepán, R.; Verhoeven, W.M.A.; Marcelis, C.L.M.; Lefeber, D.J.; Egger, J.I.M.; Tuinier, S. |
| | 2009 | Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry. | Guillard, M.; Gloerich, J.; Wessels, H.J.; Morava, E.; Wevers, R.A.; Lefeber, D.J. |
| | 2009 | Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. | Hucthagowder, V.; Morava, E.; Kornak, U.; Lefeber, D.J.; Fischer, B.; Dimopoulou, A.; Aldinger, A.; Choi, J.; Davis, E.C.; Abuelo, D.N.; Adamowicz, M.; Al-Aama, J.Y.; Basel-Vanagaite, L.; Fernandez, B.; Greally, M.T.; Gillessen-Kaesbach, G.; Kayserili, H.; Lemyre, E.; Tekin, M.; Turkmen, S.; Tuysuz, B.; Yuksel-Konuk, B.; Mundlos, S.; Maldergem, L. van; Wevers, R.A.; Urban, Z. |
| | 2009 | Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. | Lefeber, D.J.; Schonberger, J.; Morava, E.; Guillard, M.; Huyben, C.M.L.C.; Verrijp, K.; Grafakou, O.; Evangeliou, A.; Preijers, F.W.M.B.; Manta, P.; Yildiz, J.; Grunewald, S.; Spilioti, M.; Elzen, C. van den; Klein, D.; Hess, D.; Ashida, H.; Hofsteenge, J.; Maeda, Y.; Heuvel, L.P.W.J. van den; Lammens, M.M.Y.; Lehle, L.; Wevers, R.A. |
| | 2008 | Removal of heparan sulfate from the glomerular basement membrane blocks protein passage. | Wijnhoven, T.J.M.; Lensen, J.F.M.; Wismans, R.G.; Lefeber, D.J.; Rops, A.; Vlag, J. van der; Berden, J.H.M.; Kuppevelt, A.H.M.S.M. van |
| | 2008 | Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. | Morava, E.; Lefeber, D.J.; Urban, Z.; Meirleir, L. de; Meinecke, P.; Kaesbach, G. Gillessen; Sykut-Cegielska, J.; Adamowicz, M.; Salafsky, I.; Ranells, J.; Lemyre, E.; Reeuwijk, J. van; Brunner, H.G.; Wevers, R.A. |
| | 2008 | Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. | Morava, E.; Wosik, H.; Karteszi, J.; Guillard, M.; Adamowicz, M.; Sykut-Cegielska, J.; Hadzsiev, K.; Wevers, R.A.; Lefeber, D.J. |
| | 2008 | Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. | Truin, G.; Guillard, M.; Lefeber, D.J.; Sykut-Cegielska, J.; Adamowicz, M.; Hoppenreijs, E.; Sengers, R.C.A.; Wevers, R.A.; Morava, E. |
| | 2007 | Two-dimensional gel electrophoresis of apolipoprotein C-III and other serum glycoproteins for the combined screening of human congenital disorders of O- and N- glycostation. | Bruneel, A.; Robert, T.; Lefeber, D.J.; Benard, G.; Loncle, E.; Djedour, A.; Durand, A.; Seta, N. |
| | 2007 | Removal of heparan sulfate from the glomerular basement membrane blocks protein passage. | Wijnhoven, T.J.M.; Lensen, J.F.M.; Wismans, P.G.P.; Lefeber, D.J.; Rops, A.L.; Vlag, J. van der; Berden, J.H.M.; Heuvel, L.P.W.J. van den; Kuppevelt, A.H.M.S.M. van |
| | 2007 | Congenital disorder of glycosylation type Ia presenting with hydrops fetalis. | Kamp, J.M. van de; Lefeber, D.J.; Ruijter, G.J.; Steggerda, S.J.; Hollander, N.S.; Willems, S.M.; Matthijs, G.; Poorthuis, B.J.H.M.; Wevers, R.A. |
| | 2007 | A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. | Morava, E.; Zeevaert, R.; Korsch, E.; Huijben, K.M.; Wopereis, S.; Matthijs, G.; Keymolen, K.; Lefeber, D.J.; Meirleir, L. de; Wevers, R.A. |
| | 2007 | Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. | Adamowicz, M.; Ploski, R.; Rokicki, D.; Morava, E.; Gizewska, M.; Mierzewska, H.; Pollak, A.; Lefeber, D.J.; Wevers, R.A.; Pronicka, E. |
| | 2007 | Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. | Vermeer, S.; Kremer, H.P.H.; Leijten, Q.H.; Scheffer, H.; Matthijs, G.; Wevers, R.A.; Knoers, N.V.A.M.; Morava, E.; Lefeber, D.J. |
| | 2007 | Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. | Wopereis, S.; Grunewald, S.; Huijben, K.M.; Morava, E.; Mollicone, R.; Engelen, B.G.M. van; Lefeber, D.J.; Wevers, R.A. |
| | 2006 | CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans. | Albahri, Z.; Marklova, E.; Dedek, P.; Hojdikova, H.; Fiedler, Z.; Lefeber, D.J.; Wevers, R.A.; Morava, E.; Wopereis, S. |
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