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Page 1
Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.
Wesół-Kucharska D, Greczan M, Kaczor M, Ehmke Vel Emczyńska-Seliga E, Hajdacka M, Czekuć-Kryśkiewicz E, Piekutowska-Abramczuk D, Halat-Wolska P, Ciara E, Jaworski M, Jezela-Stanek A, Rokicki D. Wesół-Kucharska D, et al. Among authors: piekutowska abramczuk d. Nutrients. 2024 Mar 13;16(6):812. doi: 10.3390/nu16060812. Nutrients. 2024. PMID: 38542723 Free PMC article.
The frequency of NBN molecular variants in pediatric astrocytic tumors.
Piekutowska-Abramczuk D, Ciara E, Popowska E, Grajkowska W, Dembowska-Bagińska B, Kowalewska E, Czajńska A, Perek-Polnik M, Roszkowski M, Syczewska M, Krajewska-Walasek M, Perek D, Chrzanowska KH. Piekutowska-Abramczuk D, et al. J Neurooncol. 2010 Jan;96(2):161-8. doi: 10.1007/s11060-009-9958-5. Epub 2009 Jul 22. J Neurooncol. 2010. PMID: 19629396
Heterozygous germ-line mutations in the NBN gene predispose to medulloblastoma in pediatric patients.
Ciara E, Piekutowska-Abramczuk D, Popowska E, Grajkowska W, Barszcz S, Perek D, Dembowska-Bagińska B, Perek-Polnik M, Kowalewska E, Czajńska A, Syczewska M, Czornak K, Krajewska-Walasek M, Roszkowski M, Chrzanowska KH. Ciara E, et al. Acta Neuropathol. 2010 Mar;119(3):325-34. doi: 10.1007/s00401-009-0608-y. Epub 2009 Nov 12. Acta Neuropathol. 2010. PMID: 19908051
Four novel RSK2 mutations in females with Coffin-Lowry syndrome.
Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Jurkiewicz D, et al. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. doi: 10.1016/j.ejmg.2010.07.006. Epub 2010 Jul 15. Eur J Med Genet. 2010. PMID: 20637903
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E. Piekutowska-Abramczuk D, et al. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814823
Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D, Pronicki M, Strawa K, Karkucińska-Więckowska A, Szymańska-Dębińska T, Fidziańska A, Więckowski MR, Jurkiewicz D, Ciara E, Jankowska I, Sykut-Cegielska J, Krajewska-Walasek M, Płoski R, Pronicka E. Piekutowska-Abramczuk D, et al. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229
Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.
Jurkiewicz D, Gliwicz D, Ciara E, Gerfen J, Pelc M, Piekutowska-Abramczuk D, Kugaudo M, Chrzanowska K, Spinner NB, Krajewska-Walasek M. Jurkiewicz D, et al. J Appl Genet. 2014 Aug;55(3):329-36. doi: 10.1007/s13353-014-0212-2. Epub 2014 Apr 20. J Appl Genet. 2014. PMID: 24748328 Free PMC article.
Leigh disease due to SCO2 mutations revealed at extended autopsy.
Szymanska-Debinska T, Karkucinska-Wieckowska A, Piekutowska-Abramczuk D, Jurkiewicz E, Iwanicka-Pronicka K, Rokicki D, Pronicki M. Szymanska-Debinska T, et al. J Clin Pathol. 2015 May;68(5):397-9. doi: 10.1136/jclinpath-2014-202606. Epub 2015 Feb 26. J Clin Pathol. 2015. PMID: 25720770 No abstract available.
76 results