Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Maja Klaudel-Dreszler"'
Autor:
Ewa Krasuska-Sławińska, Maja Klaudel-Dreszler, Marta Minota, Magdalena Pożyczka-Fedor, Dorota Olczak-Kowalczyk, Izabela Minko-Chojnowska
Publikováno v:
Central European Journal of Immunology, Vol 48, Iss 1, Pp 70-74 (2023)
Severe congenital neutropenia (SCN) comprises a heterogenous group of disorders characterized by a constantly low absolute neutrophil count (ANC) below 0.5 × 109/l in the peripheral blood and maturation arrest of the myelopoiesis in the bone marrow
Externí odkaz:
https://doaj.org/article/9c8a478a7d7a46c19c02e7f2110973d4
Autor:
Tomasz Jarmoliński, Monika Rosa, Blanka Rybka, Renata Ryczan-Krawczyk, Kornelia Gajek, Katarzyna Bogunia-Kubik, Maja Klaudel-Dreszler, Piotr Czubkowski, Piotr Kaliciński, Joanna Teisseyre, Marek Stefanowicz, Ewa Gorczyńska, Krzysztof Kałwak, Marek Ussowicz
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
We report a child with Fanconi anemia who, after hematopoietic stem cell transplantation (HSCT) complicated by acute graft-versus-host disease (GVHD), underwent orthotopic liver transplantation (OLT). Approximately 1 month after OLT, the presence of
Externí odkaz:
https://doaj.org/article/efdd36937e9e4d6ebbb0036ef6b7f6e1
Autor:
Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Grzegorz Oracz, Joanna Pawłowska, Mieczysław Szalecki
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-7 (2020)
Abstract Background Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure i
Externí odkaz:
https://doaj.org/article/24bef1bdba624bdcbc9a31ed7b994c3a
Autor:
Imeke Goldschmidt, Evgeny Chichelnitskiy, Nicole Rübsamen, Veronika K. Jaeger, André Karch, Lorenzo D’Antiga, Angelo Di Giorgio, Emanuele Nicastro, Deirdre A. Kelly, Valerie McLin, Simona Korff, Dominique Debray, Muriel Girard, Loreto Hierro, Maja Klaudel-Dreszler, Malgorzata Markiewicz-Kijewska, Christine Falk, Ulrich Baumann
Publikováno v:
Children, Vol 10, Iss 1, p 128 (2023)
Background: The current gold standard to diagnose T-cell-mediated acute rejection (TCMR) requires liver histology. Using data from the ChilSFree study on immune response after paediatric liver transplantation (pLT), we aimed to assess whether soluble
Externí odkaz:
https://doaj.org/article/93f5115d7d9e43f89b4e22ac9e5f6df3
Autor:
Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2021)
Introduction: Inborn errors of primary bile acid (BA) synthesis are rare autosomal recessive disorders responsible for 1–2% of cases of neonatal cholestasis. Among them, cerebrotendinous xanthomatosis (CTX) is caused by mutations in the CYP27A1 gen
Externí odkaz:
https://doaj.org/article/4272449ac4234b1d94a437d7295a9b37
Autor:
Miriam Entesarian, Magnus Nordenskjöld, Avinash Khandagale, Daniel Nilsson, Krzysztof Kałwak, Teresa Holmlund, Bengt Fadeel, Maja Klaudel-Dreszler, Jan-Inge Henter, Göran Carlsson
Publikováno v:
British Journal of Haematology
Summary Severe congenital neutropenia (SCN) of autosomal recessive inheritance, also known as Kostmann disease, is characterised by a lack of neutrophils and a propensity for life‐threatening infections. Using whole‐exome sequencing, we identifie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82868723ce75b49fcab552ab29e3d0b4
http://europepmc.org/articles/PMC7839451
http://europepmc.org/articles/PMC7839451
Autor:
Maja Klaudel-Dreszler, Agnieszka Bogusz-Wójcik, Mieczysław Szalecki, Joanna Pawłowska, Grzegorz Oracz, Honorata Kołodziejczyk, Elżbieta Moszczyńska
Publikováno v:
Pediatric Endocrinology Diabetes and Metabolism.
Shwachman-Diamond syndrome (SDS) is a rare, autosomal recessive multisystemic disorder characterized by pancreatic insufficiency and bone marrow failure. Short stature is a recognized feature of SDS syndrome; however, systemic data concerning recombi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c25dd71c80598ffcb338df3632a0d156
https://doi.org/10.5114/pedm.2021.105298
https://doi.org/10.5114/pedm.2021.105298
Autor:
Grzegorz Oracz, Mieczysław Szalecki, Elżbieta Moszczyńska, Maja Klaudel-Dreszler, Joanna Pawłowska, Honorata Kołodziejczyk, Agnieszka Bogusz-Wójcik
Publikováno v:
Endokrynologia Polska. 72(3)
Introduction: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure, and bone malformations. Systematic data concerning endocrine function in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6a4f27a019b8abc333b5dbaee10e010
https://pubmed.ncbi.nlm.nih.gov/33619711
https://pubmed.ncbi.nlm.nih.gov/33619711
Autor:
Honorata Kołodziejczyk, Maja Klaudel-Dreszler, Mieczysław Szalecki, Agnieszka Bogusz-Wójcik, Joanna Pawłowska, Grzegorz Oracz
Publikováno v:
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-7 (2020)
Italian Journal of Pediatrics
Italian Journal of Pediatrics
Background Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9dbf07c4501b75545e95fb012429638
https://doi.org/10.21203/rs.3.rs-36045/v1
https://doi.org/10.21203/rs.3.rs-36045/v1
Autor:
Meino Rohlfs, Eyal Shteyer, Eman Al Idrissi, Klaus Schwarz, Ulrich Pannicke, Marita Führer, Sibylle Koletzko, Christoph Walz, Fernando E. Sepulveda, Scott B. Snapper, Christoph Klein, Amira Bouzidi, Michael Field, Dan Turner, Aleixo M. Muise, Hamza Ali Alghamdi, Yue Li, Daniel Kotlarz, Veit Hornung, Piotr Socha, Marine Gil, Anna S. Lehle, Moritz M. Gaidt, Geneviève de Saint Basile, Bernd Baumann, Raffaele Conca, Thomas Magg, Rachida Boukari, Yanshan Liu, Neil Warner, Sebastian Hollizeck, Slae Mordechai, Maja Klaudel-Dreszler, Ehsan Bahrami, Reda Belbouab, Manfred Hönig
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (3), pp.970-975. ⟨10.1073/pnas.1813582116⟩
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2019, 116 (3), pp.970-975. ⟨10.1073/pnas.1813582116⟩
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is a critical regulator of cell death and inflammation, but its relevance for human disease pathogenesis remains elusive. Studies of monogenic disorders might provide critical insights in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54510583d24839bc870da2e868dae48c
https://pubmed.ncbi.nlm.nih.gov/30591564
https://pubmed.ncbi.nlm.nih.gov/30591564