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Isotopic Tracing of Nucleotide Sugar Metabolism in Human Pluripotent Stem Cells Conte, Federica; Noga, Marek J.; van Scherpenzeel, Monique; Veizaj, Raisa; Scharn, Rik; Juda-El Sam; Palumbo, Chiara; van den Brandt, Frans C. A.; Freund, Christian; Soares, Eduardo; Zhou, Huiqing; Lefeber, Dirk J. 分享 收藏
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs van Scherpenzeel, Monique; Conte, Federica; Bull, 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. 分享 收藏
Structure-Activity Relationship of Fluorinated Sialic Acid Inhibitors for Bacterial Sialylation 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. 分享 收藏
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots Conte, Federica; Morava, Eva; Abu Bakar, Nurulamin; Wortmann, Saskia B.; Poerink, Anne Jonge; Grunewald, Stephanie; Crushell, Ellen; Al-Gazali, Lihadh; de Vries, Maaike C.; Morkrid, Lars; Hertecant, Jozef; Holmefjord, Katja S. Brocke; Kronn, David; Feigenbaum, Annette; Fingerhut, Ralph; Wong, Sunnie Y.; van Scherpenzeel, Monique; Voermans, Nicol C.; Lefeber, Dirk J. 分享 收藏
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017) 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, Bjorn; 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. 分享 收藏
Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-L-Ribitol Pyrophosphorylase A Muscular Dystrophy van Tol, Walinka; van Scherpenzeel, Monique; Alsady, Mohammad; Riemersma, Moniek; Hermans, Esther; Kragt, Else; Tasca, Giorgio; Kamsteeg, Erik-Jan; Pennings, Maartje; van Beusekom, Ellen; Vermeulen, Jeroen R.; van Bokhoven, Hans; Voermans, Nicol C.; Willemsen, Michel A.; Ashikov, Angel; Lefeber, Dirk J. 分享 收藏
Combined sialic acid and histone deacetylase (HDAC) inhibitor treatment up-regulates the neuroblastoma antigen GD2 联合唾液酸和组蛋白去乙酰化酶 (HDAC) 抑制剂治疗上调神经母细胞瘤抗原GD2 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.; Buell, Christian; Adema, Gosse J. 分享 收藏
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function 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.; Zijistra, Fokje; Abu Bakar, A.; Drogemoller, Britt; Moreland, Jacqueline; Wasserman, Wyeth W.; Valiance, Hilary; van Scherpenzeel, Monique; Karbassi, Farhad; Hoskings, Martin; Engelke, Udo; de de Brouwer, Arjan; Wevers, Ron A.; Pshezhetsky, Alexey, V; van Karnebeek, Clara D. M.; Lefeber, Dirk J. 分享 收藏
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency Abu Bakar, Nurulamin; Voermans, Nicol C.; Marquardt, Thorsten; Thiel, Christian; Janssen, Mirian C. H.; Hansikova, Hana; Crushell, Ellen; Sykut-Cegielska, Jolanta; Bowling, Francis; Morkrid, Lars; Vissing, John; Morava, Eva; van Scherpenzeel, Monique; Lefeber, Dirk J. 分享 收藏
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Oral D-galactose supplementation in PGM1-CDG Wong, Sunnie Yan-Wai; Gadomski, Therese; van Scherpenzeel, Monique; Honzik, Tomas; Hansikova, Hana; Holmefjord, Katja S. Brocke; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Hertecant, Jozef; Preston, Graeme; Jaeken, Jaak; Peeters, Nicole; Perez, Stefanie; Do Nguyen, David; Crivelly, Kea; Emmerzaal, Tim; Gibson, K. Michael; Raymond, Kimiyo; Abu Bakar, Nurulamin; Foulquier, Francois; Poschet, Gernot; Ackermann, Amanda M.; He, Miao; Lefeber, Dirk J.; Thiel, Christian; Kozicz, Tamas; Morava, Eva 分享 收藏
Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa ATP6V1E1或ATP6V1A突变引起常染色体隐性皮肤松弛 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, Bjorn; 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. 分享 收藏
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Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect de la Morena-Barrio, M. E.; Martinez-Martinez, I.; de Cos, C.; Wypasek, E.; Roldan, V.; Undas, A.; van Scherpenzeel, M.; Lefeber, D. J.; Toderici, M.; Sevivas, T.; Espana, F.; Jaeken, J.; Corral, J.; Vicente, V. 分享 收藏
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; Mueller, 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. 分享 收藏
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, Dorothee; 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, Francois; Veltman, Joris A.; Lefeber, Dirk J. 分享 收藏
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation Jansen, Jos C.; Cirak, Sebahattin; van Scherpenzeel, Monique; Timal, Sharita; Reunert, Janine; Rust, Stephan; Perez, Belen; Vicogne, Dorothee; Krawitz, Peter; Wada, Yoshinao; Ashikov, Angel; Perez-Cerda, 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-Cecile; 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, Francois; Marquardt, Thorsten; Lefeber, Dirk J. 分享 收藏
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A common sugar-nucleotide-mediated mechanism of inhibition of (glycosamino) glycan biosynthesis, as evidenced by 6F-GalNAc (Ac3) 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. 分享 收藏
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