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Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.
Zegarska J, Wiesik-Szewczyk E, Hryniewiecka E, Wolska-Kusnierz B, Soldacki D, Kacprzak M, Sobczynska-Tomaszewska A, Czerska K, Siedlecki P, Jahnz-Rozyk K, Bernatowska E, Zagozdzon R, Paczek L. Zegarska J, et al. Among authors: sobczynska tomaszewska a. J Clin Med. 2021 Jan 26;10(3):465. doi: 10.3390/jcm10030465. J Clin Med. 2021. PMID: 33530412 Free PMC article.
A new family with spastic paraplegia type 51 and novel mutations in AP4E1.
Winkler I, Miotła P, Lejman M, Pietrzyk A, Kacprzak M, Kubiak M, Sobczyńska-Tomaszewska A, Skrzypczak M, Jaszczuk I. Winkler I, et al. Among authors: sobczynska tomaszewska a. BMC Med Genomics. 2021 May 18;14(1):131. doi: 10.1186/s12920-021-00980-5. BMC Med Genomics. 2021. PMID: 34006278 Free PMC article.
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.
Jezela-Stanek A, Suchoń L, Sobczyńska-Tomaszewska A, Czerska K, Kuśmierska K, Taybert J, Ołtarzewski M, Sykut-Cegielska J. Jezela-Stanek A, et al. Among authors: sobczynska tomaszewska a. Genes (Basel). 2022 Apr 29;13(5):802. doi: 10.3390/genes13050802. Genes (Basel). 2022. PMID: 35627187 Free PMC article.
39 results