Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation

por Van Scherpenzeel, Monique, Willems, Esther, Lefeber, Dirk J.
Publicado en Glycoconj J (2016)

Clinical glycomics for the diagnosis of congenital disorders of glycosylation

por Abu Bakar, Nurulamin, Lefeber, Dirk J., van Scherpenzeel, Monique
Publicado en J Inherit Metab Dis (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 en Cell Mol Gastroenterol Hepatol (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 en J Inherit Metab Dis (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 en J Inherit Metab Dis (2020)

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

por Bakar, Nurulamin Abu, Voermans, Nicol C., Marquardt, Thorsten, Thiel, Christian, Janssen, Mirian C.H., Hansikova, Hana, Crushell, Ellen, Sykut-Cegielska, Jolanta, Bowling, Francis, Mørkrid, Lars, Vissing, John, Morava, Eva, van Scherpenzeel, Monique, Lefeber, Dirk J.
Publicado en Transl Res (2018)

A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino)glycan biosynthesis, as evidenced by 6F-GalNAc (Ac(3))

por van Wijk, Xander M., Lawrence, Roger, Thijssen, Victor L., van den Broek, Sebastiaan A., Troost, Ran, van Scherpenzeel, Monique, Naidu, Natasha, Oosterhof, Arie, Griffioen, Arjan W., Lefeber, Dirk J., van Delft, Floris L., van Kuppevelt, Toin H.
Publicado en FASEB J (2015)

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

por Iqbal, Zafar, Shahzad, Mohsin, Vissers, Lisenka E L M, van Scherpenzeel, Monique, Gilissen, Christian, Razzaq, Attia, Zahoor, Muhammad Yasir, Khan, Shaheen N, Kleefstra, Tjitske, Veltman, Joris A, de Brouwer, Arjan P M, Lefeber, Dirk J, van Bokhoven, Hans, Riazuddin, Sheikh
Publicado 2013

Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2

por van den Bijgaart, Renske J. E., Kroesen, Michiel, Wassink, Melissa, Brok, Ingrid C., Kers-Rebel, Esther D., Boon, Louis, Heise, Torben, van Scherpenzeel, Monique, Lefeber, Dirk J., Boltje, Thomas J., den Brok, Martijn H., Hoogerbrugge, Peter M., Büll, Christian, Adema, Gosse J.
Publicado en J Biol Chem (2019)

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 en Genet Med (2017)

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

por 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.
Publicado en Am J Hum Genet (2016)

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function

por Wen, Xiao-Yan, Tarailo-Graovac, Maja, Brand-Arzamendi, Koroboshka, Willems, Anke, Rakic, Bojana, Huijben, Karin, Da Silva, Afitz, Pan, Xuefang, El-Rass, Suzan, Ng, Robin, Selby, Katheryn, Philip, Anju Mary, Yun, Junghwa, Ye, X. Cynthia, Ross, Colin J., Lehman, Anna M., Zijlstra, Fokje, Abu Bakar, N., Drögemöller, Britt, Moreland, Jacqueline, Wasserman, Wyeth W., Vallance, Hilary, van Scherpenzeel, Monique, Karbassi, Farhad, Hoskings, Martin, Engelke, Udo, de Brouwer, Arjan, Wevers, Ron A., Pshezhetsky, Alexey V., van Karnebeek, Clara D.M., Lefeber, Dirk J.
Publicado en JCI Insight (2018)

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 en Nat Commun (2016)

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

por Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Publicado 2013

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

por Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cerdá, Celia, Medrano, Celia, Arnoldy, Andrea, Hoischen, Alexander, Huijben, Karin, Steenbergen, Gerry, Quelhas, Dulce, Diogo, Luisa, Rymen, Daisy, Jaeken, Jaak, Guffon, Nathalie, Cheillan, David, van den Heuvel, Lambertus P., Maeda, Yusuke, Kaiser, Olaf, Schara, Ulrike, Gerner, Patrick, van den Boogert, Marjolein A.W., Holleboom, Adriaan G., Nassogne, Marie-Cécile, Sokal, Etienne, Salomon, Jody, van den Bogaart, Geert, Drenth, Joost P.H., Huynen, Martijn A., Veltman, Joris A., Wevers, Ron A., Morava, Eva, Matthijs, Gert, Foulquier, François, Marquardt, Thorsten, Lefeber, Dirk J.
Publicado en Am J Hum Genet (2016)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

por Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Peter K.C., Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Publicado en Am J Hum Genet (2017)

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

por Van Damme, Tim, Gardeitchik, Thatjana, Mohamed, Miski, Guerrero-Castillo, Sergio, Freisinger, Peter, Guillemyn, Brecht, Kariminejad, Ariana, Dalloyaux, Daisy, van Kraaij, Sanne, Lefeber, Dirk J., Syx, Delfien, Steyaert, Wouter, De Rycke, Riet, Hoischen, Alexander, Kamsteeg, Erik-Jan, Wong, Sunnie Y., van Scherpenzeel, Monique, Jamali, Payman, Brandt, Ulrich, Nijtmans, Leo, Korenke, G. Christoph, Chung, Brian H.Y., Mak, Christopher C.Y., Hausser, Ingrid, Kornak, Uwe, Fischer-Zirnsak, Björn, Strom, Tim M., Meitinger, Thomas, Alanay, Yasemin, Utine, Gulen E., Leung, Kai Ching Peter, Ghaderi-Sohi, Siavash, Coucke, Paul, Symoens, Sofie, De Paepe, Anne, Thiel, Christian, Haack, Tobias B., Malfait, Fransiska, Morava, Eva, Callewaert, Bert, Wevers, Ron A.
Publicado en Am J Hum Genet (2020)