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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.
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy.
Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Płoski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB. Danhauser K, et al. Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401461 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
80 results