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Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.
Autor:
Dabrowska-Leonik N; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Pastorczak AK; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland., Bąbol-Pokora K; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland., Bernat-Sitarz K; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Piątosa B; Histocompatibility Laboratory, Children's Memorial Health Institute (IPCZD), Warsaw, Poland., Heropolitańska-Pliszka E; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland., Kacprzak MM; MedGen Medical Center, Warsaw, Poland., Kalwak K; Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland., Gul K; Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland., van der Burg M; Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands., Ussowicz M; Department of Paediatric Bone Marrow Transplantation, Oncology and Hematology, Wroclaw Medical University, Wroclaw, Poland., Pac M; Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland.
Publikováno v:
Frontiers in immunology [Front Immunol] 2022 Oct 19; Vol. 13, pp. 1033338. Date of Electronic Publication: 2022 Oct 19 (Print Publication: 2022).
Autor:
Repczynska A; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland. annasz@cm.umk.pl., Julga K; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland., Skalska-Sadowska J; Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznan, Poland., Kacprzak MM; Medgen SA, Warsaw, Poland., Bartoszewska-Kubiak A; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland., Lazarczyk E; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland., Loska D; Medgen SA, Warsaw, Poland., Drozniewska M; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Czerska K; Medgen SA, Warsaw, Poland., Wachowiak J; Department of Pediatric Oncology, Hematology and Transplantology, University of Medical Sciences, Poznan, Poland., Haus O; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Jul 19; Vol. 17 (1), pp. 282. Date of Electronic Publication: 2022 Jul 19.
Autor:
Kubiak K; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland. Electronic address: katarzyna.kubiak@p.lodz.pl., Kurzawa M; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland., Jędrzejczak-Krzepkowska M; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland., Ludwicka K; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland., Krawczyk M; Genomed SA, Ponczowa 12, 02-971 Warsaw, Poland; Polish-Japanese Institute of Information Technology, Koszykowa 86, 02-008 Warsaw, Poland., Migdalski A; Genomed SA, Ponczowa 12, 02-971 Warsaw, Poland., Kacprzak MM; Genomed SA, Ponczowa 12, 02-971 Warsaw, Poland., Loska D; Genomed SA, Ponczowa 12, 02-971 Warsaw, Poland; Polish-Japanese Institute of Information Technology, Koszykowa 86, 02-008 Warsaw, Poland., Krystynowicz A; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland., Bielecki S; Institute of Technical Biochemistry, Lodz University of Technology, Stefanowskiego 4/10, 90-924 Lodz, Poland.
Publikováno v:
Journal of biotechnology [J Biotechnol] 2014 Apr 20; Vol. 176, pp. 18-9. Date of Electronic Publication: 2014 Feb 17.
Novel mutations reveal two important regions in Aspergillus nidulans transcriptional activator MetR.
Autor:
Brzywczy J; Department of Genetics, Institute of Biochemistry and Biophysics, Polish Academy of Sciences, ul. Pawińskiego 5A, 02-106 Warsaw, Poland. jurek@ibb.waw.pl, Kacprzak MM, Paszewski A
Publikováno v:
Fungal genetics and biology : FG & B [Fungal Genet Biol] 2011 Feb; Vol. 48 (2), pp. 104-12. Date of Electronic Publication: 2010 Oct 16.
Autor:
Pluta K; Department of Hybrid Biosystems Engineering, Institute of Biocybernetics and Biomedical Engineering Polish Academy of Sciences, Warszawa, Poland. kpluta@ibib.waw.pl, Kacprzak MM
Publikováno v:
Acta biochimica Polonica [Acta Biochim Pol] 2009; Vol. 56 (4), pp. 531-95. Date of Electronic Publication: 2009 Nov 23.
Autor:
Lee SN; Department of Biochemistry and Molecular Biology, Louisiana State University Health Sciences Center/Research Institute for Children, New Orleans, Louisiana 70118, USA., Kacprzak MM, Day R, Lindberg I
Publikováno v:
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2007 Apr 13; Vol. 355 (3), pp. 825-9. Date of Electronic Publication: 2007 Feb 15.