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  • Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

    Published in:
    American Journal of Hematology, 2019, v. 94, n. 1, p. 149, doi. 10.1002/ajh.25325
    By:
    • Bianchi, Paola;
    • Fermo, Elisa;
    • Glader, Bertil;
    • Kanno, Hitoshi;
    • Agarwal, Archana;
    • Barcellini, Wilma;
    • Eber, Stefan;
    • Hoyer, James D.;
    • Kuter, David J.;
    • Maia, Tabita Magalhães;
    • Mañu‐Pereira, Maria del Mar;
    • Kalfa, Theodosia A.;
    • Pissard, Serge;
    • Segovia, José‐Carlos;
    • van Beers, Eduard;
    • Gallagher, Patrick G.;
    • Rees, David C.;
    • van Wijk, Richard
    Publication type:
    Article

  • Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases.

    Published in:
    Human Mutation, 2014, v. 35, n. 1, p. 15, doi. 10.1002/humu.22448
    By:
    • Bento, Celeste;
    • Percy, Melanie J.;
    • Gardie, Betty;
    • Maia, Tabita Magalhães;
    • Wijk, Richard;
    • Perrotta, Silverio;
    • Della Ragione, Fulvio;
    • Almeida, Helena;
    • Rossi, Cedric;
    • Girodon, François;
    • Åström, Maria;
    • Neumann, Drorit;
    • Schnittger, Susanne;
    • Landin, Britta;
    • Minkov, Milen;
    • Randi, Maria Luigia;
    • Richard, Stéphane;
    • Casadevall, Nicole;
    • Vainchenker, William;
    • Rives, Susana
    Publication type:
    Article