Please use this identifier to cite or link to this item:
http://e.ieu.edu.ua/handle/123456789/1268
Title: | Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine |
Authors: | Boyarchuk, Oksana Kostyuchenko, Larysa Akopyan, Hayane Bondarenko, Anastasiia Volokha, Alla Hilfanova, Anna Savchak, Ihor Nazarenko, Liliia Yarema, Nataliiа Urbas, Olhа Hrabovska, Iryna Lysytsia, Oleksandr Budzyn, Andri Tykholaz, Oksana Ivanchuk, Marianа Bastanohova, Olha Patskun, Erika Vasylenko, Nataliia Stepanovskyy, Yuriy Chernyshova, Liudmyla Makukh, Halyna |
Keywords: | Nijmegen breakage syndrome NBN gene malignancies Diagnosis incidence clinical analysis immunological characterization |
Issue Date: | Jun-2024 |
Citation: | Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine / Boyarchuk О. et al. Front. Immunol.,. 2024. Vol. 15. No.12. DOI: https://doi.org/10.3389/fimmu.2024.1428724 |
Abstract: | Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, characterized by microcephaly, immunodeficiency, and impaired DNA repair. NBS is most prevalent among Slavic populations, including Ukraine. Our study aimed to comprehensively assess the prevalence, diagnosis, clinical data, immunological parameters, and treatment of NBS patients in Ukraine. |
URI: | http://e.ieu.edu.ua/handle/123456789/1268 |
Appears in Collections: | Кафедра педіатрії, імунології, інфекційних і рідісних захворювань |
Files in This Item:
File | Description | Size | Format | |
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fimmu-15-1428724.pdf | Nijmegen breakage syndrome: 25-year experience of diagnosis and treatment in Ukraine | 1.54 MB | Adobe PDF | View/Open |
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