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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities.
Szymańska E, Szymańska S, Truszkowska G, Ciara E, Pronicki M, Shin YS, Podskarbi T, Kępka A, Śpiewak M, Płoski R, Bilińska ZT, Rokicki D. Szymańska E, et al. Among authors: pronicki m. Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19. Arch Med Sci. 2018. PMID: 29379554 Free PMC article. No abstract available.
Ganglioglioma associated with alterations of NBN gene. A case report.
Grajkowska W, Piekutowska-Abramczuk D, Ciara E, Dembowska-Baginska B, Perek D, Roszkowski M, Daszkiewicz P, Matyja E, Pronicki M, Chrzanowska KH. Grajkowska W, et al. Among authors: pronicki m. Folia Neuropathol. 2009;47(3):278-83. Folia Neuropathol. 2009. PMID: 19813148 Free article.
Case report: Infantile systemic hyalinosis: a dental perspective.
Olczak-Kowalczyk D, Krasuska-Slawinska E, Rokicki D, Pronicki M. Olczak-Kowalczyk D, et al. Among authors: pronicki m. Eur Arch Paediatr Dent. 2011 Aug;12(4):224-6. doi: 10.1007/BF03262812. Eur Arch Paediatr Dent. 2011. PMID: 21806909
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.
Karkucinska-Wieckowska A, Trubicka J, Werner B, Kokoszynska K, Pajdowska M, Pronicki M, Czarnowska E, Lebiedzinska M, Sykut-Cegielska J, Ziolkowska L, Jaron W, Dobrzanska A, Ciara E, Wieckowski MR, Pronicka E. Karkucinska-Wieckowska A, et al. Among authors: pronicki m. J Inherit Metab Dis. 2013 Nov;36(6):929-37. doi: 10.1007/s10545-013-9584-4. Epub 2013 Jan 30. J Inherit Metab Dis. 2013. PMID: 23361305 Free PMC article.
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. Among authors: pronicki m. Clin Genet. 2014 Jun;85(6):573-7. doi: 10.1111/cge.12228. Epub 2013 Jul 28. Clin Genet. 2014. PMID: 23829229
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. Among authors: pronicki m. 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.
Reclassification of C4d-Positive Endomyocardial Biopsy (EMB) According to New International Society for Heart and Lung Transplantation (ISHLT) 2013 Categories for Reporting Pathologic Antibody-Mediated Rejection (pAMR): Preliminary Data from a Polish Single-Center Study.
Szymańska S, Grajkowska W, Sobieszczańska-Małek M, Zieliński T, Pronicki M. Szymańska S, et al. Among authors: pronicki m. Ann Transplant. 2015 Jun 23;20:351-6. doi: 10.12659/AOT.893635. Ann Transplant. 2015. PMID: 26101425 Free article.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E, Rokicki D, Halat P, Karkucińska-Więckowska A, Piekutowska-Abramczuk D, Mayr J, Trubicka J, Szymańska-Dębińska T, Pronicki M, Pajdowska M, Dudzińska M, Giżewska M, Krajewska-Walasek M, Książyk J, Sperl W, Płoski R, Pronicka E. Ciara E, et al. Among authors: pronicki m. Mol Genet Metab Rep. 2016 Apr 18;7:70-6. doi: 10.1016/j.ymgmr.2016.03.004. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27144126 Free PMC article.
97 results