Search Results - "Avčin, Simona Lucija"

REVESZ SYNDROME AND DIFFERENTIAL DIAGNOSIS OF PANCYTOPENIA AND APLASTIC ANEMIA – CASE REPORT by Homšak, Matjaž, Kulaš, Mario, Prelog, Tomaž, Lucija Avčin, Simona, Vipotnik Vesnaver, Tina

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REVESZOV SINDROM IN DIFERENCIALNO DIAGNOSTICIRANJE PANCITOPENIJE IN APLASTIČNE ANEMIJE – PRIKAZ PRIMERA by Homšak, Matjaž, Kulaš, Mario, Prelog, Tomaž, Lucija Avčin, Simona, Vipotnik Vesnaver, Tina

“…Predstavljamo primer dečka z Reveszovim sindromom in na primeru diagnostične poti diferencialno diagnosticiranje pancitopenije in aplastične anemije. Reveszov…”
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Prikaz primera prvega uspešnega genskega zdravljenja slovenskega bolnika z mukopolisaharidozo tipa I v tujini by Jalšovec, Tadej, Lah, Benjamin, Bernardo, Maria Ester, Drole Torkar, Ana, Kodrič, Jana, Žerjav Tanšek, Mojca, Avčin, Simona Lucija, Aiuti, Alessandro, Battelino, Tadej, Grošelj, Urh

“…Mukopolisaharidoze so skupina lizosomskih bolezni kopičenja. Njihova skupna značilnost je pomanjkanje delovanja encimov, ki razgrajujejo glikozaminoglikane,…”
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Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome by Charbit-Henrion, Fabienne, Jeverica, Anja K, Bègue, Bernadette, Markelj, Gasper, Parlato, Marianna, Avčin, Simona Lucija, Callebaut, Isabelle, Bras, Marc, Parisot, Mélanie, Jazbec, Janez, Homan, Matjaz, Ihan, Alojz, Rieux-Laucat, Frédéric, Stolzenberg, Marie-Claude, Ruemmele, Frank M, Avčin, Tadej, Cerf-Bensussan, Nadine

“…OBJECTIVE:Early-onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial in defining…”
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Bifidobacterium breve Sepsis in Child with High-Risk Acute Lymphoblastic Leukemia by Avcin, Simona Lucija, Pokorn, Marko, Kitanovski, Lidija, Premru, Manica Mueller, Jazbec, Janez

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Integrative Transcriptomic Profiling of the Wilms Tumor by Avčin, Simona Lucija, Črepinšek, Klementina, Jenko Bizjan, Barbara, Šket, Robert, Kovač, Jernej, Vrhovšek, Blaž, Blazina, Jerca, Blatnik, Olga, Kordič, Robert, Kitanovski, Lidija, Jazbec, Janez, Debeljak, Maruša, Tesovnik, Tine

“…Our study aimed to identify relevant transcriptomic biomarkers for the Wilms tumor, the most common pediatric kidney cancer, independent of the histological…”
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Deficiency in Mucosa‐associated Lymphoid Tissue Lymphoma Translocation 1 by Charbit‐Henrion, Fabienne, Jeverica, Anja K., Bègue, Bernadette, Markelj, Gasper, Parlato, Marianna, Avčin, Simona Lucija, Callebaut, Isabelle, Bras, Marc, Parisot, Mélanie, Jazbec, Janez, Homan, Matjaz, Ihan, Alojz, Rieux‐Laucat, Frédéric, Stolzenberg, Marie‐Claude, Ruemmele, Frank M., Avčin, Tadej, Cerf‐Bensussan, Nadine

“…ABSTRACT Objective: Early‐onset inflammatory bowel diseases can result from a wide spectrum of rare mendelian disorders. Early molecular diagnosis is crucial…”
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Use of eculizumab in children with allogeneic haematopoietic stem cell transplantation associated thrombotic microangiopathy - a multicentre retrospective PDWP and IEWP EBMT study by Svec, Peter, Elfeky, Reem, Galimard, Jacques-Emmanuel, Higham, Christine S., Dalissier, Arnaud, Quigg, Troy C., Bueno Sanchez, David, Han Lum, Su, Faraci, Maura, Cole, Theresa, Pichler, Herbert, Benítez-Carabante, Maria Isabel, Horakova, Julia, Gonzalez -Vicent, Marta, Yanir, Asaf, Fagioli, Franca, Wölfl, Matthias, von der Weid, Nicolas, Protheroe, Rachel, Krivan, Gergely, Speckmann, Carsten, James, Beki, Avcin, Simona Lucija, Bertrand, Yves, Verna, Marta, Riha, Petr, Patrick, Katharine, Cesaro, Simone, Kalwak, Krzysztof, Bierings, Marc, Büchner, Jochen, Mellgren, Karin, Prohászka, Zoltán, Neven, Bénédicte, Lankester, Arjan, Corbacioglu, Selim

“…Terminal complement blockade by humanised monoclonal antibody eculizumab has been used to treat transplantation-associated thrombotic microangiopathy (TA-TMA)…”
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Bifidobacterium breve Sepsis in Child with High-Risk Acute Lymphoblastic Leukemia by Avcin, Simona Lucija, Pokorn, Marko, Kitanovski, Lidija, Premru, Manica Mueller, Jazbec, Janez

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