Diagnosing lysosomal storage diseases in a Brazilian non-newborn population by tandem mass spectrometry

por Brand, Guilherme Dotto, de Matos, Helainy Cristina, da Cruz, Gabriel Costa Nunes, do Carmo Fontes, Nilza, Buzzi, Marcelo, Brum, Jaime Moritz
Publicado 2013

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

por Abu Bakar, Nurulamin, Ashikov, Angel, Brum, Jaime Moritz, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Keng, Wee Teik, Speck‐Martins, Carlos Eduardo, de Carvalho, Daniel Rocha, de Rizzo, Isabela Maria Pinto Oliveira, de Mello, Walquiria Domingues, Heiner‐Fokkema, Rebecca, Gorman, Kathleen, Grunewald, Stephanie, Michelakakis, Helen, Moraitou, Marina, Martinelli, Diego, van Scherpenzeel, Monique, Janssen, Mirian, de Boer, Lonneke, van den Heuvel, Lambertus P., Thiel, Christian, Lefeber, Dirk J.
Publicado 2022