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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: rokicki d. 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.
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: rokicki d. Eur Arch Paediatr Dent. 2011 Aug;12(4):224-6. doi: 10.1007/BF03262812. Eur Arch Paediatr Dent. 2011. PMID: 21806909
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: rokicki d. 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.
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Trubicka J, Jurkiewicz E, Rokicki D, Mierzewska H, Spychalska J, Uhrynowska M, Szwarc-Bronikowska M, Buda P, Said AR, Jamroz E, Rydzanicz M, Płoski R, Krajewska-Walasek M, Pronicka E. Jezela-Stanek A, et al. Among authors: rokicki d. Eur J Paediatr Neurol. 2016 May;20(3):462-73. doi: 10.1016/j.ejpn.2016.01.007. Epub 2016 Feb 4. Eur J Paediatr Neurol. 2016. PMID: 26879448
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: rokicki d. 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.
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. Among authors: rokicki d. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
82 results