Not logged in Share Save
Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG Zdrazilova, L.; Rakosnikova, T.; Himmelreich, N.; Ondruskova, N.; Pasak, M.; Vanisova, M.; Volfova, N.; Honzik, T.; Thiel, C.; Hansikova, H. Share Save
Share Save
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; Osorio, Glentino Rodrigues Pinto; Brand-Arzamendi, Koroboshka; Hasadsri, Linda; Hansikova, Hana; Raymond, Kimiyo; Vicogne, Dorothee; 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. Share Save
Share Save
Share Save
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency Van Scherpenzeel, Monique; Timal, Sharita; Rymen, Daisy; Hoischen, Alexander; Wuhrer, Manfred; Hipgrave-Ederveen, Agnes; Grunewald, Stephanie; Peanne, Romain; Saada, Ann; Edvardson, Shimon; Gronborg, Sabine; Ruijter, George; Kattentidt-Mouravieva, Anna; Brum, Jaime Moritz; Freckmann, Mary-Louise; Tomkins, Susan; Jalan, Anil; Prochazkova, Dagmar; Ondruskova, Nina; Hansikova, Hana; Willemsen, Michel A.; Hensbergen, Paul J.; Matthijs, Gert; Wevers, Ron A.; Veltman, Joris A.; Morava, Eva; Lefeber, Dirk J. Share Save
Share Save
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency Honzik, Tomas; Magner, Martin; Krijt, Jakub; Sokolova, Jitka; Vugrek, Oliver; Beluzic, Robert; Baric, Ivo; Hansikova, Hana; Elleder, Milan; Vesela, Katerina; Bauerova, Lenka; Ondruskova, Nina; Jesina, Pavel; Zeman, Jiri; Kozich, Viktor Share Save
.png){kind=icon}
.png){kind=icon}
Not logged in.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}