Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement

Autor: Wlodarski, Marcin W ^{*, *}, Vlachos, Adrianna ^*, Farrar, Jason E ^*, Da Costa, Lydie M, Kattamis, Antonis, Dianzani, Irma, Belendez, Cristina, Unal, Sule, Tamary, Hannah, Pasauliene, Ramune, Pospisilova, Dagmar, de la Fuente, Josu, Iskander, Deena, Wolfe, Lawrence, Liu, Johnson M, Shimamura, Akiko, Albrecht, Katarzyna, Lausen, Birgitte, Bechensteen, Anne Grete, Tedgard, Ulf, Puzik, Alexander, Quarello, Paola, Ramenghi, Ugo, Bartels, Marije, Hengartner, Heinz, Farah, Roula A, Al Saleh, Mahasen, Hamidieh, Amir Ali, Yang, Wan, Ito, Etsuro, Kook, Hoon, Ovsyannikova, Galina, Kager, Leo, Gleizes, Pierre-Emmanuel, Dalle, Jean-Hugues, Strahm, Brigitte, Niemeyer, Charlotte M, Lipton, Jeffrey M ^*, Leblanc, Thierry M ^*

Publikováno v: In The Lancet Haematology May 2024 11(5):e368-e382

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Autor: Hakkarainen, Marja, Kaaja, Ilse, Douglas, Suvi P. M., Vulliamy, Tom, Dokal, Inderjeet, Soulier, Jean, Larcher, Lise, Peffault de Latour, Régis, Leblanc, Thierry, Sicre de Fontbrune, Flore, Siitonen, Timo, Lohi, Olli, Hellström-Lindberg, Eva, Barbany, Gisela, Tesi, Bianca, Shimamura, Akiko, Beier, Fabian, Jackson, Sharon, Kuperman, Amir Asher, Falik Zaccai, Tzipora, Tamary, Hannah, Mecucci, Cristina, Capolsini, Ilaria, Jahnukainen, Kirsi, Salmenniemi, Urpu, Niinimäki, Riitta, Varilo, Teppo, Kilpivaara, Outi, Wartiovaara-Kautto, Ulla

Publikováno v: In Blood 8 June 2023 141(23):2853-2866

Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Autor: Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, Ehl, Stephan

Publikováno v: In The Journal of Allergy and Clinical Immunology November 2021 148(5):1332-1341

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Rivaroxaban compared with standard anticoagulants for the treatment of acute venous thromboembolism in children: a randomised, controlled, phase 3 trial

Autor: Molinari, Angelo C., Nowak Göttl, Ulrike, Chain, Juan, Robertson, Jeremy, Thom, Katharina, Streif, Werner, Schwarz, Rudolf, Schmitt, Klaus, Grangl, Gernot, Van Damme, An, Maes, Philip, Labarque, Veerle, Petrilli, Antonio, Loggeto, Sandra, Azeka, Estela, Brandao, Leonardo, Le, Doan, Sabapathy, Christine, Giordano, Paola, Wu, Runhui, Ding, Jie, Huang, Wenyan, Mao, Jianhua, Lähteenmäki, Päivi, Amedro, Pascal, Decramer, Stephane, Bernig, Toralf, Chada, Martin, Chan, Godfrey, Kally, Krisztian, Nolan, Beatrice, Revel-Vilk, Shoshana, Tamary, Hannah, Levin, Carina, Tormene, Daniela, Abbattista, Maria, Artoni, Andrea, Ikeyama, Takanari, Inuzuka, Ryo, Yasukochi, Satoshi, Morales Soto, Michelle, Solis Labastida, Karina A, Suijker, Monique H, Bartels, Marike, Tamminga, Rienk Y, Van Ommen, C Heleen, Te Loo, D. Maroeska, Anjos, Rui, Zubarovskaya, Lyudmila, Popova, Natalia, Samochatova, Elena, Belogurova, Margarita, Svirin, Pavel, Shutova, Tatiana, Lebedev, Vladimir, Barbarash, Olga, Koh, Pei L, Mei, Joyce C, Podracka, Ludmila, Berrueco, Ruben, Fernandez, Maria F, Frisk, Tony, Grunt, Sebastian, Rischewski, Johannes, Albisetti-Pedroni, Manuela, Antmen, Ali, Tokgoz, Huseyin, Karakas, Zeynep, Chalmers, Elizabeth, Motwani, Jayashree, Williams, Michael, Grainger, John, Payne, Jeanette, Richards, Mike, Baird, Susan, Bhatnagar, Neha, Aramburo, Angela, Crary, Shelley, Wynn, Tung, Carpenter, Shannon, Hege, Kerry, Ahuja, Sanjay, Goldenberg, Neil, Woods, Gary, Godder, Kamar, Scott-Emuakpor, Ajovi, Roach, Gavin, Raffini, Leslie, Shah, Nirmish, Shah, Sanjay, Thornburg, Courtney, Zia, Ayesha, Berkow, Roger, Male, Christoph ^*, Lensing, Anthonie W A, Palumbo, Joseph S, Kumar, Riten, Nurmeev, Ildar, Bonnet, Damien, Connor, Philip, Hooimeijer, Hélène L, Torres, Marcela, Chan, Anthony K C, Kenet, Gili, Holzhauer, Susanne, Santamaría, Amparo, Simioni, Paolo, Bhat, Rukhmi V, Yee, Donald L, Lvova, Olga, Beyer-Westendorf, Jan, Biss, Tina T, Martinelli, Ida, Saracco, Paola, Peters, Marjolein, Kállay, Krisztián, Gauger, Cynthia A, Massicotte, M Patricia, Young, Guy, Pap, Akos F, Majumder, Madhurima, Smith, William T, Heubach, Jürgen F ^*, Berkowitz, Scott D, Thelen, Kirstin, Kubitza, Dagmar, Crowther, Mark, Prins, Martin H, Monagle, Paul

Publikováno v: In The Lancet Haematology January 2020 7(1):e18-e27