Pantoea Species Bacteremia in a Child With Sickle Cell Disease: Looking for a Culprit von Oliveira, Marisa I, Batalha, Sara, Gouveia, Catarina, Maia, Raquel, Kjöllerstrom, Paula

Volltext

Osteoarticular infections in paediatric sickle cell disease: in the era of multidrugresistant bacteria von Gouveia, Catarina, Duarte, Mariana, Norte, Susana, Alves, Pedro, Kjöllerström, Paula, Brito, Maria, Tavares, Delfin

Volltext

Eltrombopag Use in Children with Persistent and Chronic Primary Immune Thrombocytopenia in a Portuguese Pediatric Center von Lopes, Caroline, Castro, Ana, Maia, Raquel, Batalha, Sara, Kjöllerström, Paula

Volltext

Cutaneous hyperpigmentation and cobalamin deficiency von Machado, Raquel, Furtado, Filipa, Kjöllerström, Paula, Cunha, Florbela

Volltext

Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia von Silva, Marisa, Vargas, Sofia, Coelho, Andreia, Ferreira, Emanuel, Mendonça, Joana, Vieira, Luís, Maia, Raquel, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Soares, Isabel Mota, Lavinha, João, Silva, Rita, Kjöllerström, Paula, Faustino, Paula

Volltext

Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein-Barr Virus Infection von Sousa Nunes, Beatriz, Gouveia, Catarina, Kjollerstrom, Paula, Farela Neves, João

Volltext

Haemophilia A: health and economic burden of a rare disease in Portugal von Café, Andreia, Carvalho, Manuela, Crato, Miguel, Faria, Miguel, Kjollerstrom, Paula, Oliveira, Cristina, Pinto, Patrícia Jesus Ribeiro, Salvado, Ramón, Dos Santos, Alexandra Aires, Silva, Catarina

Volltext

Genetic modulators of fetal hemoglobin expression and ischemic stroke occurrence in African descendant children with sickle cell anemia von Nicolau, Marta, Vargas, Sofia, Silva, Marisa, Coelho, Andreia, Ferreira, Emanuel, Mendonça, Joana, Vieira, Luís, Kjöllerström, Paula, Maia, Raquel, Silva, Rita, Dias, Alexandra, Ferreira, Teresa, Morais, Anabela, Soares, Isabel Mota, Lavinha, João, Faustino, Paula

Volltext

Genotype–phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS von Fidalgo, Teresa, Salvado, Ramon, Corrales, Irene, Pinto, Silva Catarina, Borràs, Nina, Oliveira, Ana, Martinho, Patricia, Ferreira, Gisela, Almeida, Helena, Oliveira, Cristina, Marques, Dalila, Gonçalves, Elsa, Diniz, MJoão, Antunes, Margarida, Tavares, Alice, Caetano, Gonçalo, Kjöllerström, Paula, Maia, Raquel, Sevivas, Teresa, Vidal, Francisco, Ribeiro, Leticia

Volltext

Spontaneous neonatal humeral artery thromboembolism: a case report von Faustino, Joana, Carvalho, Ana Araújo, Ferreira, Sara Tavares, Kjöllerström, Paula

Volltext

NEXT GENERATION SEQUENCING APPROACH TO BONE MARROW FAILURE SYNDROMES – PORTUGUESE EXPERIENCE von Coucelo, Margarida, Azevedo, Joana, Bogalho, Isabel, Simões, Ana Teresa, Oliveira, Ana Catarina, Batalha, Sara, Constanço, Conceição, Melo, Teresa, Almeida, José Carlos, Desterro, Joana, Ribeiro, Patricia, Costa, Emilia, Ferrão, Anabela, Kjollerstrom, Paula, Geraldes, Catarina

Volltext

SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS von Leardini, Davide, Cerasi, Sara, Baccelli, Francesco, Gottardi, Francesca, Muratore, Edoardo, Kállay, Krisztián Miklós, Kjollerstrom, Paula, Batalha, Sara, Rumi, Elisa, Santini, Valeria, Raddi, Marco Gabriele, Rao, Anupama, Rio-Machin, Ana, Masetti, Riccardo

Volltext

Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia von Ferrão, José, Silva, Marisa, Gonçalves, Lúcia, Gomes, Susana, Loureiro, Pedro, Coelho, Andreia, Miranda, Armandina, Seuanes, Filomena, Reis, Ana Batalha, Pina, Francisca, Maia, Raquel, Kjöllerström, Paula, Monteiro, Estela, Lacerda, João F., Lavinha, João, Gonçalves, João, Faustino, Paula

Volltext

GENOTYPE/PHENOTYPE ASSOCIATIONS IN 174 INDIVIDUALS WITH GERMLINE GATA2 MUTATIONS von Kotmayer, Lili, Kozyra, Emilia, Kaiser, Maximilian, Dworzak, Michael, Moerloose, Barbara De, Starý, Jan, Hasle, Henrik, Jahnukainen, Kirsi, Polychronopoulou, Sophia, Kállay, Krisztián, Smith, Owen, Barzilai, Shlomit, Masetti, Riccardo, Buechner, Jochen, Ussowicz, Marek, Kjollerstrom, Paula, Boďová, Ivana, Kavcic, Marko, Catala, Albert, Turkiewicz, Dominik, Schmugge, Markus, Haas, Valérie De, Voss, Rebecca, Bigas, Anna, Romero, Damia, Bödör, Csaba, Erlacher, Miriam, Giorgetti, Alessandra, Niemeyer, Charlotte, Wlodarski, Marcin

Volltext

NPM1 MUTATIONS IN CHILDREN WITH MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS von Yoshimi, Ayami, Erlacher, Miriam, Noellke, Peter, Ramamoorthy, Senthilkumar, Göhring, Gudrun, Birenboim, Shlomit Barzilai –, Bodova, Ivana, Buechner, Jochen, Catala, Albert, Haas, Valérie De, Moerloose, Barbara De, Dworzak, Michael, Hasle, Henrik, Jahnukainen, Kirsi, Kallay, Krisztian, Kavcic, Marko, Kjollerstrom, Paula, Locatelli, Franco, Masetti, Riccardo, Polychronopoulou, Sophia, Schmugge, Markus, Smith, Owen, Stary, Jan, Turkiewicz, Dominik, Ussowicz, Marek, Rotari, Natalia, Wlodarski, Marcin, Strahm, Brigitte, Niemeyer, Charlotte

Volltext

Mental Nerve Neuropathy: A Rare Manifestation in Sickle Cell Disease von Alcafache, Margarida, Santos, Susana, Sassetti, Madalena, Batalha, Sara, Maia, Raquel, Lopes da Silva, Rita, Kjöllerstrom, Paula

Volltext

Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes von Sahoo, Sushree S., Pastor, Victor B., Goodings, Charnise, Voss, Rebecca K., Kozyra, Emilia J., Szvetnik, Amina, Noellke, Peter, Dworzak, Michael, Starý, Jan, Locatelli, Franco, Masetti, Riccardo, Schmugge, Markus, De Moerloose, Barbara, Catala, Albert, Kállay, Krisztián, Turkiewicz, Dominik, Hasle, Henrik, Buechner, Jochen, Jahnukainen, Kirsi, Ussowicz, Marek, Polychronopoulou, Sophia, Smith, Owen P., Fabri, Oksana, Barzilai, Shlomit, de Haas, Valerie, Baumann, Irith, Schwarz-Furlan, Stephan, Niewisch, Marena R., Sauer, Martin G., Burkhardt, Birgit, Lang, Peter, Bader, Peter, Beier, Rita, Müller, Ingo, Albert, Michael H., Meisel, Roland, Schulz, Ansgar, Cario, Gunnar, Panda, Pritam K., Wehrle, Julius, Hirabayashi, Shinsuke, Derecka, Marta, Durruthy-Durruthy, Robert, Göhring, Gudrun, Yoshimi-Noellke, Ayami, Ku, Manching, Lebrecht, Dirk, Erlacher, Miriam, Flotho, Christian, Strahm, Brigitte, Niemeyer, Charlotte M., Wlodarski, Marcin W.

Volltext

Refractory immune hemolytic anemia in an immunocompetent infant with cytomegalovirus infection von Loureiro, Bruno, Batalha, Sara, Rocha, Elsa, Maia, Raquel, Kjöllerström, Paula

Volltext

Neonatal Acute Compartment Syndrome as First Manifestation of Hematologic Disease: Case Report von Sacras, Maria Luís, Ladeira, Catarina, Carmo, Sara, Kjöllerström, Paula

Volltext

Comparison of outcomes of immunosuppressive therapy with rabbit versus horse antithymocyte globulin and cyclosporine a in children with acquired severe aplastic anemia von Yoshimi, Ayami, Noellke, Peter, Starý, Jan, Kállay, Krisztián, Smith, Owen, Locatelli, Franco, Buechner, Jochen, Bodova, Ivana, Sevilla, Julian, Schmugge, Markus, Bierings, Marc, Masmas, Tania, Dworzak, Michael, Labarque, Veerle, Pawelec, Katarzyna, Jahnukainen, Kirsi, Polychronopoulou, Sophia, Kjollerstrom, Paula, Kavcic, Marko, Erlacher, Miriam, Niemeyer, Charlotte M., Strahm, Brigitte

Volltext