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

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

Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.769-781 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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