Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5
Linders, Peter T. A., Gerretsen, Eveline C. F., Ashikov, Angel, Vals, Mari-Anne, de Boer, Rinse, Revelo, Natalia H., Arts, Richard, Baerenfaenger, Melissa, Zijlstra, Fokje, Huijben, Karin, Raymond, Kimiyo, Muru, Kai, Fjodorova, Olga, Pajusalu, Sander, Õunap, Katrin, ter Beest, Martin, Lefeber, Dirk, van den Bogaart, Geert
Published in Nature communications (28.10.2021)
Published in Nature communications (28.10.2021)
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Transferrin and Apolipoprotein C-III Isofocusing Are Complementary in the Diagnosis of N- and O-Glycan Biosynthesis Defects
Wopereis, Suzan, Grunewald, Stephanie, Huijben, Karin M.L.C, Morava, Eva, Mollicone, Rosella, van Engelen, Baziel G.M, Lefeber, Dirk J, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.02.2007)
Published in Clinical chemistry (Baltimore, Md.) (01.02.2007)
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Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
TIMAL, Sharita, HOISCHEN, Alexander, GILISSEN, Christian, RODENBURG, Richard J, EIDHOF, Ilse, VAN DEN HEUVEL, Lambert, THIEL, Christian, WEVERS, Ron A, MORAVA, Eva, VELTMAN, Joris, LEFEBER, Dirk J, LEHLE, Ludwig, ADAMOWICZ, Maciej, HUIJBEN, Karin, SYKUT-CEGIELSKA, Jolanta, PAPROCKA, Justyna, JAMROZ, Ewa, VAN SPRONSEN, Francjan J, KÖRNER, Christian
Published in Human molecular genetics (01.10.2012)
Published in Human molecular genetics (01.10.2012)
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Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes
Baerenfaenger, Melissa, Post, Merel A, Langerhorst, Pieter, Huijben, Karin, Zijlstra, Fokje, Jacobs, Joannes F M, Verbeek, Marcel M, Wessels, Hans J C T, Lefeber, Dirk J
Published in International journal of molecular sciences (18.01.2023)
Published in International journal of molecular sciences (18.01.2023)
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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
Lefeber, Dirk J, de Brouwer, Arjan P M, Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H M, Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M R, Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A
Published in PLoS genetics (01.12.2011)
Published in PLoS genetics (01.12.2011)
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Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients
Vals, Mari‐Anne, Ashikov, Angel, Ilves, Pilvi, Loorits, Dagmar, Zeng, Qiang, Barone, Rita, Huijben, Karin, Sykut‐Cegielska, Jolanta, Diogo, Luísa, Elias, Abdallah F., Greenwood, Robert S., Grunewald, Stephanie, van Hasselt, Peter M., van de Kamp, Jiddeke M., Mancini, Grazia, Okninska, Agnieszka, Pajusalu, Sander, Rudd, Pauline M., Rustad, Cecilie F., Salvarinova, Ramona, de Vries, Bert B.A., Wolf, Nicole I., Ng, Bobby G., Freeze, Hudson H., Lefeber, Dirk J., Õunap, Katrin
Published in Journal of inherited metabolic disease (01.05.2019)
Published in Journal of inherited metabolic disease (01.05.2019)
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In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
Conte, Federica, Ashikov, Angel, Mijdam, Rachel, van de Ven, Eline G P, van Scherpenzeel, Monique, Veizaj, Raisa, Mahalleh-Yousefi, Seyed P, Post, Merel A, Huijben, Karin, Panneman, Daan M, Rodenburg, Richard J T, Voermans, Nicol C, Garanto, Alejandro, Koopman, Werner J H, Wessels, Hans J C T, Noga, Marek J, Lefeber, Dirk J
Published in International journal of molecular sciences (04.05.2023)
Published in International journal of molecular sciences (04.05.2023)
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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis
Wopereis, Suzan, Grunewald, Stephanie, Morava, Eva, Penzien, Johannes M, Briones, Paz, Garcia-Silva, M. Teresa, Demacker, Pierre N.M, Huijben, Karin M.L.C, Wevers, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
Published in Clinical chemistry (Baltimore, Md.) (01.11.2003)
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Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups
Wopereis, Suzan, Morava, Éva, Grůnewald, Stephanie, Adamowicz, Maciej, Huijben, Karin M. L. C, Lefeber, Dirk J, Wevers, Ron A
Published in Glycobiology (Oxford) (01.12.2005)
Published in Glycobiology (Oxford) (01.12.2005)
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Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria
Wopereis, Suzan, Abd Hamid, Umi M., Critchley, Alison, Royle, Louise, Dwek, Raymond A., Morava, Éva, Leroy, Jules G., Wilcken, Bridget, Lagerwerf, Aart J., Huijben, Karin M.L.C., Lefeber, Dirk J., Rudd, Pauline M., Wevers, Ron A.
Published in Biochimica et biophysica acta (01.06.2006)
Published in Biochimica et biophysica acta (01.06.2006)
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A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Wopereis, Suzan, Morava, Éva, Grünewald, Stephanie, Mills, Philippa B., Winchester, Bryan G., Clayton, Peter, Coucke, Paul, Huijben, Karin M.L.C., Wevers, Ron A.
Published in Biochimica et biophysica acta (30.06.2005)
Published in Biochimica et biophysica acta (30.06.2005)
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Hemolytic uremic syndrome attributable to streptococcus pneumoniae infection: A novel cause for secondary protein N-glycan abnormalities
DE LOOS, Femke, HUIJBEN, Karin M. L. C, VAN DER KAR, Nicole C. A. J, MONNENS, Leo A. H, VAN DEN HEUVEL, Lambertus P. W. J, GROENER, Johanna E. M, DE MOOR, Ronald A, WEVERS, Ron A
Published in Clinical chemistry (Baltimore, Md.) (01.05.2002)
Published in Clinical chemistry (Baltimore, Md.) (01.05.2002)
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ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Published in Nature communications (27.05.2016)
Published in Nature communications (27.05.2016)
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TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation
Jansen, Jos C., Timal, Sharita, van Scherpenzeel, Monique, Michelakakis, Helen, Vicogne, Dorothée, Ashikov, Angel, Moraitou, Marina, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, van den Boogert, Marjolein A.W., Porta, Francesco, Calvo, Pier Luigi, Mavrikou, Mersyni, Cenacchi, Giovanna, van den Bogaart, Geert, Salomon, Jody, Holleboom, Adriaan G., Rodenburg, Richard J., Drenth, Joost P.H., Huynen, Martijn A., Wevers, Ron A., Morava, Eva, Foulquier, François, Veltman, Joris A., Lefeber, Dirk J.
Published in American journal of human genetics (04.02.2016)
Published in American journal of human genetics (04.02.2016)
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Wilson, Matthew P., Garanto, Alejandro, Pinto e Vairo, Filippo, Ng, Bobby G., Ranatunga, Wasantha K., Ventouratou, Marina, Baerenfaenger, Melissa, Huijben, Karin, Thiel, Christian, Ashikov, Angel, Keldermans, Liesbeth, Souche, Erika, Vuillaumier-Barrot, Sandrine, Dupré, Thierry, Michelakakis, Helen, Fiumara, Agata, Pitt, James, White, Susan M., Lim, Sze Chern, Gallacher, Lyndon, Peters, Heidi, Rymen, Daisy, Witters, Peter, Ribes, Antonia, Morales-Romero, Blai, Rodríguez-Palmero, Agustí, Ballhausen, Diana, de Lonlay, Pascale, Barone, Rita, Janssen, Mirian C.H., Jaeken, Jaak, Freeze, Hudson H., Matthijs, Gert, Morava, Eva, Lefeber, Dirk J.
Published in American journal of human genetics (04.11.2021)
Published in American journal of human genetics (04.11.2021)
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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Vicogne, Dorothée, Ondruskova, Nina, Simon, Marleen E H, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Biot, Christophe, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter T A, van den Bogaart, Geert, van Hijum, Sacha A F T, Rodenburg, Richard, van den Heuvel, Lambertus P, van Spronsen, Francjan, Honzik, Tomas, Foulquier, Francois, van Scherpenzeel, Monique, Lefeber, Dirk J, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude
Published in Human molecular genetics (01.09.2018)
Published in Human molecular genetics (01.09.2018)
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Screening for abnormal glycosylation in a cohort of adult liver disease patients
Jansen, Jos C., Hoek, Bart, Metselaar, Herold J., Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1
Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Rizzo, Isabela Maria Pinto Oliveira, Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, Scherpenzeel, Monique, Janssen, Mirian, Boer, Lonneke, Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Toward understanding tissue‐specific symptoms in dolichol‐phosphate‐mannose synthesis disorders; insight from DPM3‐CDG
Tol, Walinka, Michelakakis, Helen, Georgiadou, Elissavet, Bergh, Peter, Moraitou, Marina, Papadimas, George K., Papadopoulos, Constantinos, Huijben, Karin, Alsady, Mohammad, Willemsen, Michèl A., Lefeber, Dirk J.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Morava, Eva, Tiemes, Vera, Thiel, Christian, Seta, Nathalie, de Lonlay, Pascale, de Klerk, Hans, Mulder, Margot, Rubio-Gozalbo, Estela, Visser, Gepke, van Hasselt, Peter, Horovitz, Dafne D. G., de Souza, Carolina Fischinger Moura, Schwartz, Ida V. D., Green, Andrew, Al-Owain, Mohammed, Uziel, Graciella, Sigaudy, Sabine, Chabrol, Brigitte, van Spronsen, Franc-Jan, Steinert, Martin, Komini, Eleni, Wurm, Donald, Bevot, Andrea, Ayadi, Addelkarim, Huijben, Karin, Dercksen, Marli, Witters, Peter, Jaeken, Jaak, Matthijs, Gert, Lefeber, Dirk J., Wevers, Ron A.
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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