المؤلفون: Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck-Martins, Carlos Eduardo, Carvalho, Daniel Rocha, Pinto Oliveira Rizzo, Isabela Maria, 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.

المصدر: Abu Bakar , N , Ashikov , A , Brum , J M , Smeets , R , Kersten , M , Huijben , K , Keng , W T , Speck-Martins , C E , Carvalho , D R , Pinto Oliveira Rizzo , I M , Mello , W D , Heiner-Fokkema , R , Gorman , K , Grunewald , S , Michelakakis , H , Moraitou , M , Martinelli , D , Scherpenzeel , M , Janssen , M , Boer , L , Heuvel , L P , Thiel , C & Lefeber ....

مصطلحات موضوعية: CDG type 1 (CDG-I), congenital disorders of glycosylation (CDG), diagnostics by mass spectrometry, glycomics, multi-omics, smMIPs, TRANSFERRIN, TETRASACCHARIDE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://research.rug.nl/en/publications/43f9fccd-de47-43af-8cd8-aaa035ab7848
https://doi.org/10.1002/jimd.12496
https://pure.rug.nl/ws/files/219218620/J_of_Inher_Metab_Disea_2022_Abu_Bakar_Synergistic_use_of_glycomics_and_single_molecule_molecular_inversion_probes_for.pdf