SH2B3 GERMLINE MUTATION CAUSE A MULTISYSTEM DISORDER WITH PREDISPOSITION TO MYELOPROLIFERATIVE NEOPLASMS

Autor: Davide Leardini, Sara Cerasi, Francesco Baccelli, Francesca Gottardi, Edoardo Muratore, Krisztián Miklós Kállay, Paula Kjollerstrom, Sara Batalha, Elisa Rumi, Valeria Santini, Marco Gabriele Raddi, Anupama Rao, Ana Rio-Machin, Riccardo Masetti

Publikováno v: EJC Paediatric Oncology, Vol 2, Iss , Pp 100042- (2023)

Externí odkaz: https://doaj.org/article/c21ea3142b424e55bca227fb64e96b5e

NPM1 MUTATIONS IN CHILDREN WITH MYELODYSPLASTIC SYNDROME WITH EXCESS BLASTS

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

Publikováno v: EJC Paediatric Oncology, Vol 2, Iss , Pp 100071- (2023)

Externí odkaz: https://doaj.org/article/cf18133fdb9d41dabaf3d41295f0b02d

Haemophilia A: health and economic burden of a rare disease in Portugal

Autor: Andreia Café, Manuela Carvalho, Miguel Crato, Miguel Faria, Paula Kjollerstrom, Cristina Oliveira, Patrícia R. Pinto, Ramón Salvado, Alexandra Aires dos Santos, Catarina Silva

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

Abstract Background Haemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of ha

Externí odkaz: https://doaj.org/article/3bd256435be5469e9df69ba18eecb730

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Cold Agglutinin Syndrome and Hemophagocytic Lymphohistiocytosis: An Unusual Combination Caused by Epstein-Barr Virus Infection.

Autor: Sousa Nunes B; Department of Pediatrics, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, PRT., Gouveia C; Department of Infectious Diseases, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, PRT.; Academic Clinical Centre, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PRT., Kjollerstrom P; Department of Pediatric Hematology, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, PRT., Farela Neves J; Department of Primary Immunodeficiencies, Hospital de Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisbon, PRT.; Comprehensive Health Research Centre, Faculdade de Ciências Médicas, Universidade Nova de Lisboa, Lisbon, PRT.

Publikováno v: Cureus [Cureus] 2024 Jan 12; Vol. 16 (1), pp. e52179. Date of Electronic Publication: 2024 Jan 12 (Print Publication: 2024).