Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

por Van Scherpenzeel, Monique, Willems, Esther, Lefeber, Dirk J.
Publicado 2016

Clinical glycomics for the diagnosis of congenital disorders of glycosylation

por Abu Bakar, Nurulamin, Lefeber, Dirk J., van Scherpenzeel, Monique
Publicado 2018

NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects

por Jansen, Jos C., Wolthuis, David, Van Scherpenzeel, Monique, Ratziu, Vlad, Drenth, Joost P.H., Lefeber, Dirk J.
Publicado 2018

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy

por Martens, Jonathan, Berden, Giel, Bentlage, Herman, Coene, Karlien L. M., Engelke, Udo F., Wishart, David, van Scherpenzeel, Monique, Kluijtmans, Leo A. J., Wevers, Ron A., Oomens, Jos
Publicado 2018

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

por Jansen, Jos C., van Hoek, Bart, Metselaar, Herold J., van den Berg, Aad P., Zijlstra, Fokje, Huijben, Karin, van Scherpenzeel, Monique, Drenth, Joost P. H., Lefeber, Dirk J.
Publicado 2020

Structure–Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial Sialylation

por Moons, Sam J., Rossing, Emiel, Heming, Jurriaan J. A., Janssen, Mathilde A. C. H., van Scherpenzeel, Monique, Lefeber, Dirk J., de Jonge, Marien I., Langereis, Jeroen D., Boltje, Thomas J.
Publicado 2021

Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells

por Conte, Federica, Noga, Marek J., van Scherpenzeel, Monique, Veizaj, Raisa, Scharn, Rik, Sam, Juda-El, Palumbo, Chiara, van den Brandt, Frans C. A., Freund, Christian, Soares, Eduardo, Zhou, Huiqing, Lefeber, Dirk J.
Publicado 2023

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

por 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.
Publicado 2023

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

por van Scherpenzeel, Monique, Conte, Federica, Büll, Christian, Ashikov, Angel, Hermans, Esther, Willems, Anke, van Tol, Walinka, Kragt, Else, Noga, Marek, Moret, Ed E, Heise, Torben, Langereis, Jeroen D, Rossing, Emiel, Zimmermann, Michael, Rubio-Gozalbo, M Estela, de Jonge, Marien I, Adema, Gosse J, Zamboni, Nicola, Boltje, Thomas, Lefeber, Dirk J
Publicado 2021

ORAL D-GALACTOSE SUPPLEMENTATION IN PGM1-CDG

por Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Brocke Holmefjord, Katja S., Mork, Marit, Bowling, Francis, Cegielska, Jolanta Sykut, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K. Michael, Raymond, Kimiyo, Bakar, Nurulamin Abu, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda, He, Miao, Lefeber, Dirk, Thiel, Christian, Kozicz, Tamas, Morava, Eva
Publicado 2017

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

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

por 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.
Publicado 2016